2006 PART 6 Disorders of the Cardiovascular System

valve replacement (AVR). Primary MR due to mitral valve prolapse or

chordal rupture has been noted in patients with severe AS. Aortic valve

infective endocarditis (IE) may secondarily involve the mitral apparatus either by abscess formation and contiguous spread via the intervalvular fibrosa or by “drop metastases” from the aortic leaflets onto the

anterior leaflet of the mitral valve. Mediastinal radiation may result in

aortic, mitral, and even tricuspid valve disease, most often with mixed

stenosis and regurgitation. Carcinoid heart disease may cause mixed

lesions of either or both the tricuspid and pulmonic valves. Ergotamines, and the previously used combination of fenfluramine and phentermine, can rarely result in mixed lesions of the aortic and/or mitral

valve. Patients with Marfan syndrome may have both AR from aortic

root dilation and MR due to mitral valve prolapse (MVP). Myxomatous

degeneration causing prolapse of multiple valves (mitral, aortic, tricuspid) can also occur in the absence of an identifiable connective tissue

disorder. Bicuspid aortic or pulmonic valve disease can result in mixed

stenosis and regurgitation. The former is also associated with aortic

aneurysm disease and a predisposition to aortic dissection.

■ PATHOPHYSIOLOGY

In patients with multivalvular heart disease, the pathophysiologic

derangements associated with the more proximal valve disease can

mask the full expression of the attributes of the more distal valve lesion.

For example, in patients with rheumatic mitral and aortic valve disease,

the reduction in cardiac output (CO) imposed by the mitral valve disease will decrease the magnitude of the hemodynamic derangements

related to the severity of the aortic valve lesion (stenotic, regurgitant, or

both). Alternatively, the development of atrial fibrillation (AF) during

the course of MS can lead to sudden worsening in a patient whose aortic

valve disease was not previously felt to be significant. The development

of reactive pulmonary vascular disease, sometimes referred to as a “secondary obstructive lesion in series,” can impose an additional challenge

in these settings. As CO falls with progressive tricuspid valve disease, the

severity of any associated mitral or aortic disease can be underestimated.

One of the most common examples of multivalve disease is that of

functional TR in the setting of significant mitral valve disease. Functional TR occurs as a consequence of right ventricular and annular

dilation; pulmonary artery (PA) hypertension may be present. The

tricuspid leaflets are morphologically normal. Progressive degrees of

TR lead to right ventricular volume overload and continued chamber

and annular dilation. The TR is usually central in origin; reflux into

the right atrium (RA) is expressed as large, systolic c-v waves in the

RA pressure pulse. The height of the c-v wave is dependent on RA

compliance and the volume of regurgitant flow. The RA waveform may

become “ventricularized” in advanced stages of chronic, severe TR. CO

falls and the severity of the associated mitral valve disease may become

more difficult to appreciate. Findings related to advanced right heart

failure (e.g., ascites, edema) predominate. Primary rheumatic tricuspid valve disease may occur with rheumatic mitral disease and cause

hemodynamic changes reflective of TR, TS, or their combination. With

TS, the y descent in the RA pressure pulse is prolonged. Typically, findings related to the mitral valve disease predominate over those related

to the tricuspid valve disease.

Another example of rheumatic, multivalve disease involves the

combination of mitral and aortic valve pathology, frequently characterized by MS and AR. In isolated MS, left ventricular (LV) preload and

diastolic pressure are reduced as a function of the severity of inflow

obstruction. With concomitant AR, however, LV filling is enhanced

and diastolic pressure may rise depending on the compliance characteristics of the chamber. Because the CO falls with progressive degrees

of MS, transaortic valve flows will decline, masking the potential

severity of the aortic valve lesion (AR, AS, or its combination). As

noted above, onset of AF in such patients can be especially deleterious.

The loss of atrial systole with AF may result in a critical reduction in

CO, a rise in LA and LV diastolic pressures, and a further deleterious

increase in heart rate.

Secondary (functional) MR may complicate the course of some

patients with severe AS. The mitral valve leaflets and chordae tendineae

are usually normal. Incompetence is related to changes in LV geometry

(remodeling) and abnormal systolic tethering of the leaflets in the

context of markedly elevated LV systolic pressures. Relief of the excess

afterload with surgical or transcatheter AVR may result in reduction of

the secondary MR. Persistence of significant, secondary MR following

AVR is associated with impaired functional outcomes and reduced survival. Identification of patients who would benefit from concomitant

treatment of their secondary MR at time of AVR is quite challenging.

Most surgeons advocate for repair of moderate-to-severe or severe secondary MR at time of surgical AVR. Significant primary MR may also

coexist with AS and is routinely managed with repair or replacement at

the time of AVR. There is increasing experience with the combination

of transcatheter aortic valve implantation (TAVI) and transcatheter

edge-to-edge mitral valve repair (TEER) in high surgical risk patients

with severe AS and moderate-severe primary or secondary MR.

In patients with mixed AS and AR, assessment of valve stenosis can

be influenced by the magnitude of the regurgitant valve flow. Because

transvalvular systolic flow velocities are augmented in patients with

AR and preserved LV systolic function, the LV-aortic Doppler-derived

pressure gradient and the intensity of the systolic murmur will be elevated to values higher than expected for the true systolic valve orifice

size as measured by planimetry. Uncorrected, the Gorlin formula,

which relies on forward CO (systolic transvalvular flow) and the mean

pressure gradient for calculation of valve area, is not accurate in the

setting of mixed aortic valve disease. Similar considerations apply to

patients with mixed mitral valve disease. The peak mitral valve Doppler E wave velocity (v0

) is increased in the setting of severe MR because

of enhanced early diastolic flow and may not accurately reflect the

contribution to left atrial (LA) hypertension from any associated MS.

When either AR or MR is the dominant lesion in patients with mixed

aortic or mitral valve disease, respectively, the LV is dilated. When AS

or MS predominates, LV chamber size will be normal or small. It can

sometimes be difficult to ascertain whether stenosis or regurgitation

is the dominant lesion in patients with mixed valve disease, although

an integrated clinical and noninvasive assessment can usually provide

clarification for purposes of patient management. For patients with

moderate, mixed AS and AR in whom stenosis is the dominant lesion,

the natural history tends to parallel what might be expected for isolated

severe AS, and the treatment approach should be accordingly aligned.

Patients with significant AS, a nondilated LV chamber, and concentric hypertrophy will poorly tolerate the abrupt development of aortic

regurgitation, as may occur, for example, with IE or after surgical AVR

or TAVI complicated by paravalvular leakage. The noncompliant LV is

not prepared to accommodate the sudden volume load, and as a result,

LV diastolic pressure rises rapidly and severe heart failure develops.

Indeed, paravalvular regurgitation is a significant risk factor for shortto intermediate-term death following transcatheter AVR. Conditions in

which the LV may not be able to dilate in response to chronic AR (or

MR) include radiation heart disease and, in some patients, the cardiomyopathy associated with obesity and diabetes. Noncompliant ventricles of

small chamber size predispose to earlier onset diastolic dysfunction and

heart failure in response to any further perturbation in valve function.

■ SYMPTOMS

Compared with patients with isolated, single-lesion valve disease,

patients with multiple or mixed valve disease may develop symptoms at

a relatively earlier stage in the natural history of their disease. Symptoms

such as exertional dyspnea and fatigue are usually related to elevated

filling pressures, reduced CO, or their combination. Palpitations may

signify AF and identify mitral valve disease as an important component of the clinical presentation, even when not previously suspected.

Chest pain compatible with angina could reflect left or right ventricular

oxygen supply/demand mismatch on a substrate of hypertrophy and

pressure/volume overload with or without superimposed coronary

artery disease. Symptoms related to right heart failure (abdominal

fullness/bloating, edema) are late manifestations of advanced disease.

■ PHYSICAL FINDINGS

Mixed disease of a single valve is most often manifested by systolic and

diastolic murmurs, each with the attributes expected for the valve in

Multiple and Mixed Valvular Heart Disease

2007CHAPTER 268

question. Thus, patients with AS and AR will have characteristic midsystolic, crescendo-decrescendo and blowing, decrescendo diastolic

murmurs at the base of the heart in the second right interspace and

along the left sternal edge, respectively. Many patients with significant

AR have mid-systolic outflow murmurs even in the absence of valve

sclerosis/stenosis, and other findings of AS must be sought. The separate murmurs of AS and AR can occasionally be difficult to distinguish

from the continuous murmurs associated with either a patent ductus

arteriosus (PDA) or ruptured sinus of Valsalva aneurysm. With mixed

aortic valve disease, the systolic murmur should end before, and not

envelope or extend through, the second heart sound (S2

). The murmur

associated with a PDA is heard best to the left of the upper sternum.

The continuous murmur heard with a ruptured sinus of Valsalva

aneurysm is often first appreciated after an episode of acute chest pain.

An early ejection click, which usually defines bicuspid aortic valve

disease in young adults, is often not present in patients with congenital

mixed AS and AR. As noted above, both the intensity and duration of

these separate murmurs can be influenced by a reduction in CO and

transvalvular flow due to coexistent mitral valve disease. In patients

with isolated MS and MR, expected findings would include a blowing,

holosystolic murmur and a mid-diastolic rumble (with or without an

opening snap) best heard at the cardiac apex. An irregularly irregular

heart rhythm in such patients would likely signify AF. Findings with

TS and TR would mimic those of left-sided MS and MR, save for the

expected changes in the murmurs with respiration. The murmurs of

pulmonic stenosis and regurgitation behave in a fashion directionally

similar to AS and AR; dynamic changes during respiration should be

noted. Specific attributes of these cardiac murmurs are reviewed in

Chaps. 42 and 266.

■ LABORATORY EXAMINATION

The electrocardiogram (ECG) may show evidence of ventricular

hypertrophy and/or atrial enlargement. ECG signs indicative of rightsided cardiac abnormalities in patients with left-sided valve lesions

should prompt additional assessment for PA hypertension and/or

right-sided valve disease. The presence of AF in patients with aortic

valve disease may be a clue to the presence of previously unsuspected

mitral valve disease in the appropriate context. The chest x-ray can

be reviewed for evidence of cardiac chamber enlargement, valve and/

or annular calcification, and any abnormalities in the appearance of

the pulmonary vasculature. The latter could include enlargement of

the main and proximal pulmonary arteries with PA hypertension and

pulmonary venous redistribution/engorgement or Kerley B lines with

increasing degrees of LA hypertension. An enlarged azygos vein in the

frontal projection indicates RA hypertension. Roentgenographic findings not expected based on a single or mixed valve lesion may reflect

other valve disease.

Transthoracic echocardiography (TTE) is the most commonly used

imaging modality for the diagnosis and characterization of multiple

and/or mixed valvular heart disease and may often demonstrate

findings not clinically suspected. Transesophageal echocardiography

(TEE) may sometimes be required for more accurate assessment of

valve anatomy (specifically, the mitral valve) and when IE is considered

responsible for the clinical presentation. TTE findings of particular

interest include those related to valve morphology and function, calcification, chamber size, ventricular wall thickness, biventricular function estimated PA systolic pressure, and the dimensions of the great

vessels, including the root and ascending aorta, PA, and inferior vena

cava. Exercise testing (with or without echocardiography) can be useful

when the degree of functional limitation reported by the patient is not

adequately explained by the findings on TTE performed at rest. An

integrated assessment of the clinical and TTE findings is needed to help

determine the dominant valve lesion(s) and establish an appropriate

plan for treatment and follow-up. Natural history is usually influenced

to a relatively greater degree by the dominant lesion.

Cardiac magnetic resonance (CMR) imaging can be used to provide

additional anatomic and physiologic information when echocardiography proves suboptimal but is less well suited to the evaluation of

valve morphology. Cardiac computed tomography (CT) has been used

to assess intracardiac structures in patients with complicated IE. It is

invaluable in planning for transcatheter valve implantation. Coronary

CT angiography provides a noninvasive alternative for the assessment of coronary artery anatomy prior to surgery or transcatheter

intervention.

Invasive hemodynamic evaluation with right and left heart catheterization may be required to characterize more completely the individual contributions of each lesion in patients with either multiple or

mixed valvular heart disease. It is strongly recommended when there

is a discrepancy between the clinical and noninvasive findings in a

symptomatic patient. Measurement of PA pressures and calculation

of pulmonary vascular resistance (PVR) can help inform clinical

decision-making in certain patient subsets, such as those with advanced

mitral and tricuspid valve disease. It is important to identify any potential contribution to the clinical picture from pulmonary vascular disease. Attention to the accurate assessment of CO is essential. Coronary

angiography (if indicated) can be performed as part of the procedure.

Contrast ventriculography and great vessel angiography are performed

infrequently.

TREATMENT

Multiple and Mixed Valve Disease

Management of patients with multiple or mixed valve disease can be

challenging. As noted above, it is helpful to determine the dominant

valve lesion and proceed according to the treatment and follow-up

recommendations for it (Chaps. 261–267), being mindful of deviations from the expected course due to the contributions of more

than one valve lesion. For example, AF that emerges in the course

of moderate mitral valve disease may precipitate heart failure in

patients with concomitant, severe aortic valve disease that was previously asymptomatic.

Medical therapies are limited and include diuretics when

indicated for relief of congestion and anticoagulation to prevent

stroke and thromboembolism in patients with AF. Blood pressure–

lowering medications may be needed to treat systemic hypertension, which may aggravate left-sided regurgitant valve lesions, but

should be initiated and titrated carefully. Pulmonary vasodilators to

lower PVR are not generally effective in this context.

There is a paucity of evidence to inform practice guidelines for

surgical and/or transcatheter valve intervention in patients with

multiple or mixed valve disease. When there is a clear, dominant

lesion, as for example in a patient with severe AS and mild AR,

indications for intervention are straightforward and follow those

recommended for patients with AS (Chap. 261). In other patients,

however, there is less clarity, and decisions regarding intervention

should be based on several considerations, including those related

to lesion severity, ventricular remodeling, functional capacity, and

PA pressures. In this regard, it is important to realize that patients

with multiple and/or mixed valve disease may develop limiting

symptoms or signs of physiologic impairment even with moderate

valve lesions.

Concomitant aortic and mitral valve replacement surgery is

associated with a significantly higher perioperative mortality risk

than replacement of either valve alone, and operation should be

carefully considered. Double valve replacement surgery is usually

performed for treatment of severe (unrepairable) valve disease at

both locations and for the combination of severe disease at one

location with moderate disease at the other to avoid the hazards of

reoperation in the intermediate to late term for progressive disease

of the unoperated valve. In addition, the presence of a prosthesis

in the aortic position significantly restricts surgical exposure of the

native mitral valve. The need for double valve replacement may also

impact the decision regarding the type of prosthesis (i.e., mechanical vs tissue).

Tricuspid valve repair for moderate or severe secondary (functional) TR at the time of left-sided valve surgery is now commonplace, particularly if there is dilation of the tricuspid annulus

2008 PART 6 Disorders of the Cardiovascular System

■ PREVALENCE

The number of adults with congenital heart disease (CHD) living in

the United States is estimated to be at least 1.4 million, with just over

one in five having a complex form of CHD. The majority of adults with

CHD were diagnosed in childhood, although a substantial percentage

may have CHD first recognized as adults. Lifelong follow-up in coordination with, or directly by, clinicians with expertise in adult congenital

heart disease (ACHD) is recommended. In this chapter, we will review

the current field of ACHD, with an introduction to CHD nomenclature

and cardiac development. This is followed by a summary of the more

common CHD lesions that may be diagnosed in adulthood. Lastly,

some of the common repaired CHD lesions that are encountered in

adults are discussed. Throughout the chapter, to aid in the understanding of congenital cardiac anatomy and physiology, we include figures

displaying the passage of blood flow between blood vessels and cardiac

chambers in various disorders (Fig. 269-1).

■ THE CHANGING LANDSCAPE OF ADULT CHD

A Relatively New Subspecialty in Cardiovascular Disease

Over the past decade, the field of caring for adults with CHD (ACHD)

has blossomed, and several nationwide initiatives have been initiated

in an attempt to standardize care. The American College of Cardiology

and American Heart Association developed guidelines for the care of

adults with CHD, first published in 2008 and revised in 2018. These

guidelines emphasize the need for collaboration among primary care

practitioners, cardiologists, and ACHD subspecialty cardiologists. The

269 Congenital Heart Disease

in the Adult

Anne Marie Valente, Michael J. Landzberg

(>40 mm). The addition of tricuspid valve repair, consisting usually

of insertion of an annuloplasty ring, adds little time or complexity to

the procedure and is well tolerated. Reoperation for repair (or replacement) of progressive TR years after initial surgery for left-sided valve

disease, on the other hand, is associated with a relatively high perioperative mortality risk. Mitral valve repair or replacement for moderate or

severe secondary MR at time of AVR for AS can usually be undertaken

with acceptable risk for perioperative death or major complication.

The presence of moderate or severe MR in patients with rheumatic MS is a contraindication to percutaneous mitral balloon commissurotomy (PMBC). TAVI can be performed for mixed AS and

AR when the anatomic findings related to annulus size, coronary

height, and the distribution of calcium are favorable. Transcatheter

management of both severe AS and severe primary or secondary

MR (with deployment of an edge-to-edge clip) has been undertaken

with increasing frequency in appropriately selected patients with

prohibitive or high surgical risk. Further advances in transcatheter

treatments for multiple and mixed valve disease are anticipated.

■ FURTHER READING

Bolling SF: Tricuspid regurgitation after left heart surgery. J Am Coll

Cardiol 64:2643, 2014.

Egbe AC et al: Outcomes in moderate mixed aortic valve disease: Is it

time for a paradigm shift? J Am Coll Cardiol 67:2321, 2016.

Magne J et al: Pulmonary hypertension in valvular disease. JACC Cardiovasc Imaging 8:83, 2015.

Otto CM et al: 2020 AHA/ACC guidelines for management of

patients with valvular heart disease. A report of the American Heart

Association Joint Commission on Clinical Practice Guidelines. Circulation 143:e72, 2021.

body of medical knowledge and competencies attendant with ACHD

combined with skill acquisition in coordination of complex care over

a patient’s medical lifetime led in 2015 to ACHD board certification

examinations by the American Board of Medical Subspecialties, as well

as the establishment of requirements for advanced fellowship training

in ACHD care by the Accreditation Council for Graduate Medical

Education. In temporal association, the Adult Congenital Heart Association (ACHA) developed a process for ACHD care program accreditation based on standardization of infrastructural components felt

requisite to achieve quality outcomes for ACHD.

■ SPECIAL CONSIDERATIONS FOR THE ACHD

PATIENT

Adults with CHD may not recognize subtle changes in their exercise

capacity, some of which are associated with worse survival; by the time

symptoms are recognized, irreversible physiologic changes may have

occurred. ACHD patients are, therefore, advised to undergo regular

evaluations for surveillance of anatomic, hemodynamic, and electrophysiologic sequelae that may be present. In addition, specific situations may arise in which it is prudent to review care in consultation

with an ACHD specialist, several of which are outlined below.

Non-Cardiac Surgery Nearly all adults with CHD can be classified with stage A (harboring risk) or greater degrees of heart failure.

As such, adults with CHD may demonstrate limited hemodynamic

reserve to altered myocardial perfusion or loading conditions and may

have subclinical organ dysfunction that is not recognized by standard

laboratory assessment. Comprehensive, multispecialty assessment and

care strategy review are recommended in advance of invasive or operative procedures for adults with CHD. Table 269-1 lists the multiorgan

considerations that should be considered in adults with CHD during

perioperative resuscitation and convalescence. Anesthetic management requires particular knowledge of anatomy, physiologic consequence of underlying defects, myocardial and vascular performance,

presence and nature of previous palliative procedures and residual

shunts, alteration of venous or arterial pathways within the circulation,

and status of noncardiovascular organ physiology.

Pregnancy Women with CHD should receive counseling regarding

both maternal and fetal risks prior to conceiving a pregnancy and

should be cared for in institutions with experience in treating CHD

during pregnancy. Preconception evaluation includes detailed medical

history, with particular attention to the women’s functional capacity,

which is closely linked to maternal and fetal outcomes. Table 269-2

lists the World Health Organization classification of risk during pregnancy in women with heart disease; women at risk should be strongly

counseled about the significant risks of morbidity and mortality during

pregnancy and the postpartum period. Normal physiologic hemodynamic changes of pregnancy are significant, occur over a relatively condensed period of time, and may be compounded in adults with CHD.

Silversides and colleagues have developed a weighted-risk score for

pregnant women with heart disease, based on a large registry known

as CARPREG 2. The highest-weighted risk factors (weight of 3 points)

include a prior history of cardiac events or arrhythmias, decreased

functional status (New York Heart Association class ≥III), and presence of a mechanical heart valve. Risk factors that account for 2 points

include ventricular dysfunction, high-risk left-sided valve disease/left

ventricular outflow tract obstruction, pulmonary hypertension, coronary artery disease, and high-risk aortopathy. One point is assigned

for late pregnancy assessment or no prior cardiac intervention. In this

cohort, 16% of women experienced an adverse cardiac outcome, primarily heart failure and arrhythmia related. The predicted risks for cardiac events stratified according to point score were as follows: ≤1 point,

5%; 2 points, 10%; 3 points, 15%; 4 points, 22%; and >4 points, 41%.

Prepregnancy medications should be reviewed to ensure their

safety in pregnancy. Alternatives to angiotensin-converting enzyme

(ACE) inhibitors, angiotensin receptor blockers, and endothelin receptor blockers should be considered, as these agents are teratogenic

and contraindicated during pregnancy and should be discontinued.

Women requiring anticoagulation must be advised of the challenges of

Congenital Heart Disease in the Adult

2009CHAPTER 269

are joined together by the atrioventricular canal and the conus (infundibulum).

In the normal heart, the right ventricle (RV) is right-sided and organized

inflow-to-outflow from right to left,

while the left ventricle (LV) is left-sided

and organized inflow-to-outflow from

left to right. It is important to determine

the segmental alignments, that is, what

drains into what. For example, in the

normal heart, the right atrium (RA) is

aligned with the RV and the LV with

the aorta. Finally, the segmental connections, the way in which adjacent

segments are physically linked to each

other, are described. For example, in

the normal heart, the pulmonary artery

(PA) is connected to the RV by a complete muscular conus (infundibulum),

while the aorta is connected to the

LV by aortic-mitral fibrous continuity

(without a complete conus). Alignment

and connection are different concepts

and both are important, especially in

complex defects.

Cardiac Development The heart

starts to form in the third week of

gestation and is nearly fully formed by

8 weeks’ gestation. Mesodermal precardiac cells migrate to form the cardiac

crescents (primary heart fields) in anterior lateral plate mesoderm,

which are then brought together to form a primary linear heart tube by

ventral closure of the embryo. Cells of the second heart field continue

to proliferate outside the heart and are added to the heart tube over

the course of embryogenesis, contributing to the atria, the RV, and

outflow tract. Additionally, cardiac neural crest cells migrate into the

developing heart in the 5th–6th weeks and are essential for septation

of the outflow, formation of the semilunar valves, and patterning of

the aortic arches. Once formed, the heart tube grows and elongates

by addition of cells from the second heart field. The ends of the heart

tube are relatively fixed by the pericardial sac so that as it elongates it

must loop (bend), and in the vast majority of hearts, the loop falls to

the right (D-loop). Further elongation pushes the mid-portion of the

tube (future ventricles) inferior or caudal to the inflow, resulting in the

normal relationship between the atria and ventricles. Further growth

pushes the outflow medially and is associated with outflow rotation,

both processes essential for normal alignment of the outflow. Finally,

the proximal part of the outflow is incorporated in the RV, shortening

the outflow in association with further rotation. While this remodeling

is occurring, the outflow is undergoing septation under the influence

of cardiac neural crest cells. Septation proceeds from distal to proximal,

culminating in formation and muscularization of the infundibular, or

muscular, outflow septum, which inserts onto the superior endocardial

cushion at the rightward rim of the outflow foramen, walling the aorta

into the LV via the outflow foramen and the PA directly into the RV.

Genetic Considerations CHD is the most commonly occurring birth defect; etiologic contributors are increasingly recognized,

although often speculated to be multifactorial. Children born with

trisomy 21 have a 50% chance of having CHD, most commonly defects

in the atrioventricular canal. Conotruncal defects are associated with

a number of chromosomal abnormalities, most notably a deletion at

chromosome 22q11 (DiGeorge syndrome). Echocardiographic clues

to this association in patients with a conotruncal defect include an

associated right aortic arch or aberrant subclavian artery. Many adults

currently living with conotruncal defects may not have undergone testing for DiGeorge syndrome. This condition is important to recognize

because a variety of psychiatric disorders and disabilities in cognitive

function may be present and go untreated. Patients with Noonan

Mitral

valve

Tricuspid

valve

Superior

vena cava

Normal Heart

Right

ventricle

Right

atrium

Left

atrium

Mitral

valve

Tricuspid valve Aortic valve

Left

pulmonary

veins

Right

pulmonary

veins

Left

ventricle

Pulmonary

artery

Pulmonary

valve

Aorta

Inferior

vena cava

Aortic

valve

IVC

SVC

PA Ao

RV LV

RA LA

PV

Pulmonary

valve

FIGURE 269-1 Normal heart. Understanding of congenital cardiac anatomy and physiology is facilitated by use of box

diagrams, displaying passage of blood flow between blood vessels and cardiac chambers. Labeling (e.g., structure

names, arrows to denote direction of flow, coloring to represent oxygen saturation, connections or obstructions,

chamber or vascular pressures, oxygen saturations) can aid in representation. Ao, aorta; IVC, inferior vena cava; LA, left

atrium; LV, left ventricle; PA, pulmonary artery; PV, pulmonary veins; RA, right atrium; RV, right ventricle; SVC, superior

vena cava.

managing anticoagulation during pregnancy, and individualized strategies should be developed. A fetal echocardiogram between 18 and 22

weeks of gestation is advised for patients with CHD. Additionally, both

men and women with CHD should be counseled regarding the risk of

CHD in their offspring.

■ CONGENITAL TERMINOLOGY, DEVELOPMENT,

AND GENETICS

Congenital Nomenclature One of the challenges in caring for

adults with CHD is the inconsistent terminology used to describe the

congenital heart lesions. Several classification systems have been proposed, from the initial descriptions by Maude Abbott, Maurice Lev, and

Jesse Edwards, to the extensive characterizations by Stella and Richard

Van Praagh and Robert Anderson. In this chapter, we follow a segmental

approach. The heart is composed of several segments that are analyzed

separately before formulating a comprehensive diagnosis. The principal segments are the atria, the ventricles, and the great arteries, which

TABLE 269-1 Multiorgan Considerations in Adult Congenital Heart

Disease Patients

Neurologic Increased incidence of occult or clinically evident strokes

Decreased level of executive functioning skills

Anxiety, posttraumatic stress disorder, depression

Psychosocial disorders

Lungs Restrictive lung disease

Pulmonary vascular disease

Renal Decreased perfusion

Hepatic Liver fibrosis

Peripheral

vasculature

Increased chronic venous insufficiency

Lymphatic Impaired reabsorption

Orthopedic Scoliosis

Kyphosis

Hematologic Anemia

Coagulopathies

2010 PART 6 Disorders of the Cardiovascular System

syndrome commonly have a dysplastic pulmonary valve and have

facial and lymphatic abnormalities. Several defects in specific genes

have been associated with Noonan syndrome, most notably PTPN11.

Adults with Williams syndrome (7q11.23 deletion) commonly have

supravalvar aortic stenosis and diffuse arteriopathy, with a “cocktaillike” personality and hypercalcemia. There is a growing importance of

genome-wide analyses in subjects with CHD.

■ SPECIFIC CHD LESIONS

Dilated Right Heart There are many congenital etiologies for

right heart dilation (Table 269-3). These include congenital valvular

anomalies (such as Ebstein anomaly or pulmonary regurgitation),

intrinsic RV myocardial anomalies (arrhythmogenic RV dysplasia,

Uhl’s anomaly), or shunt lesions occurring proximal to the tricuspid

valve. Cardiac imaging is critical in determining the etiology of right

heart dilation, and knowledge of the anatomy and physiology of various shunt lesions is essential.

Atrial Septal Defect One of the most common etiologies of right

heart dilation is presence of an atrial septal defect (ASD; Fig. 269-2A).

 Intracardiac communications allow blood transmission between

chambers or spaces based on relative resistance, propulsion, and flow

patterns. Patients with large ASDs often present in childhood; however,

many ASDs are not discovered until adult life. The physiology of an

ASD is predominantly that of a “left-to-right” shunt (flow of pulmonary venous, or oxygenated, blood toward systemic venous, or deoxygenated, chambers or vessels). The degree of left-to-right shunting

determines the amount of right heart volume loading and is dictated by

the size of the defect as well as the diastolic properties of the heart. As

patients age, several factors, such as diabetes mellitus, systemic hypertension, and atherosclerosis, may contribute to decreased compliance

of the left-sided cardiac chambers and contribute to increased left-toright shunting and symptomatology. The classic physical examination

finding is a wide, fixed splitting of the second heart sound, which is

due to prolonged RV ejection and increased PA capacitance, which, in

turn, delay pulmonary valve closure. The surface electrocardiogram

(ECG) commonly displays an incomplete right bundle branch block.

Symptoms, when they occur, most commonly include exercise intolerance, arrhythmia, and dyspnea with exertion. It is not uncommon for

adults to have incidentally noted asymptomatic ASD during evaluation

of other comorbid issues. Right heart dilation, without additional etiology for such, in the setting of unrepaired ASD is considered a risk

for progression toward symptomatic right heart failure, atrial arrhythmias, and potential development of pulmonary arterial hypertension

(if such is not already present). Therefore, a patient with an ASD and

right heart dilation, particularly with symptoms attributable to such,

should be offered ASD closure. Pulmonary vascular disease leading

to pulmonary hypertension develops in up to 10% of patients with

unrepaired ASD, and Eisenmenger syndrome (ES) is a rare complication (see below). Management of patients with concomitant ASD and

pulmonary hypertension should be coordinated with both ACHD and

pulmonary hypertension experts.

Figure 269-2B illustrates the locations of various ASDs. The most

common type of an ASD is a secundum ASD, which is a defect, or

true deficiency in the atrial septum, in the region of the fossa ovalis.

This should be differentiated from a patent foramen ovale (PFO),

which is persistence of patency of the flap valve of the fossa ovalis (not

associated with right-sided cardiac dilation) and persists in up to 25%

of adults. Secundum ASDs can often be closed with occluder devices

placed percutaneously. However, certain anatomic determinants make

percutaneous closure less favorable, including large defects, inadequate

tissue rims surrounding the defect, and concomitance of anomalous

draining pulmonary veins. A primum ASD is a deficiency of the atrioventricular (AV) canal portion of the atrial septum; primum ASD is

always associated with abnormal development of the AV valves, most

commonly resulting in a cleft in the mitral valve. A coronary sinus

defect is rare and involves an opening between the coronary sinus

and the left atrium. A sinus venosus defect is not a defect in the atrial

TABLE 269-2 Modified World Health Organization (mWHO) Classification of Heart Disease in Pregnancy

mWHO I mWHO II mWHO II-III mWHO III mWHO IV

Diagnosis (if

otherwise well and

uncomplicated)

Small or mild

• Pulmonary stenosis

• Patent ductus

arteriosus

• Mitral valve prolapse

Successfully repaired

simple lesions (atrial or

ventricular septal defect,

patent ductus arteriosus,

anomalous pulmonary

venous drainage)

Atrial or ventricular

ectopic beats, isolated

Unoperated atrial or

ventricular septal defect

Repaired tetralogy of

Fallot

Most arrythmias

(supraventricular

arrhythmias)

Turner syndrome without

aortic dilatation

Mild left ventricular

impairment (EF >45%)

Hypertrophic

cardiomyopathy

Native or tissue valve

disease not considered

WHO I or IV (mild mitral

stenosis, moderate aortic

stenosis)

Marfan or other HTAD

syndrome without aortic

dilatation

Aorta <45 mm in bicuspid

aortic valve pathology

Repaired coarctation

Atrioventricular septal

defect

Moderate left ventricular

impairment (EF 30–45%)

Previous peripartum

cardiomyopathy without

any residual left ventricular

impairment

Mechanical valve

Systemic right ventricle with

good or mildly decreased

ventricular function

Fontan circulation

Fontan circulation with good

clinical course and without

associated comorbidities

Unrepaired cyanotic heart

disease

Other complex heart disease

Moderate mitral stenosis

Severe asymptomatic aortic

stenosis

Moderate aortic dilatation

(40–45 mm in Marfan syndrome

or other HTAD; 45–50 mm in

bicuspid aortic valve, Turner

syndrome ASI 20–25 mm/m2

,

tetralogy of Fallot <50 mm)

Ventricular tachycardia

Pulmonary arterial

hypertension

Severe systemic

ventricular dysfunction

(EF <30% or NYHA class

III–IV)

Previous peripartum

cardiomyopathy with any

residual left ventricular

impairment

Severe mitral stenosis

Severe symptomatic

aortic stenosis

Systemic right ventricle

with moderate or severely

decreased ventricular

function

Severe aortic dilatation

(>45 mm in Marfan

syndrome or other HTAD,

>50 mm in bicuspid aortic

valve, Turner syndrome

ASI >25 mm/m2

, tetralogy

of Fallot >50 mm)

Vascular Ehlers-Danlos

Severe (re)coarctation

Fontan with any

complication

Risk No detectable increased

risk of maternal mortality

and no/mild increased

risk in morbidity

Small increased risk of

maternal mortality or

moderate increase in

morbidity

Intermediate increased

risk of maternal mortality

or moderate to severe

increase in morbidity

Significantly increased risk of

maternal mortality or severe

morbidity

Extremely high risk of

maternal mortality or

severe morbidity

Abbreviations: ASI, aortic size index; EF, ejection fraction; HTAD, heritable thoracic aortic disease.

Congenital Heart Disease in the Adult

2011CHAPTER 269

TABLE 269-3 Congenital Etiologies of Right Heart Dilation

Congenital tricuspid valve disease

Tricuspid valve dysplasia with regurgitation

Ebstein anomaly

Congenital pulmonary valve regurgitation

Pulmonary arterial hypertension

Myocardial abnormalities

Arrhythmogenic RV cardiomyopathy

Uhl’s anomaly

Shunt lesions

Partial anomalous pulmonary venous return

Primum ASD

Secundum ASD

Sinus venosus defect

Coronary sinus septal defect

Gerbode defect (LV-RA shunt)

Coronary artery fistula to the RA, CS

Postoperative residual shunts

Abbreviations: ASD, atrial septal defect; CS, coronary sinum; LV, left ventricle; RA,

right atrium; RV, right ventricle.

FIGURE 269-2 A. Atrial septal defect. In the presence of an atrial septal defect, the difference in compliance between the (RA + RV) as compared to the (LA + LV), combined

with the size of the defect itself, allows for a “shunt” of flow (“y”) of “red” (oxygenated) blood from the left side of the heart to the right side (deoxygenated). Systemic

venous return of pure deoxygenated blood (“x”) is increased by the oxygenated shunted blood (“y”) to increase volume of blood (“x + y”) in the RA, RV, and total blood flow

to the lungs. If the volume or the sequelae of the shunted blood is sufficient, RA and RV can dilate (hashed lines), and arrhythmias or shortness of breath (and occasionally

pulmonary hypertension) can ensue. Ao, aorta; ASD, atrial septal defect; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary artery; PV, pulmonary veins;

RA, right atrium; RV, right ventricle; SVC, superior vena cava. B. Diagrammatic representation of the location of various atrial septal defects. ASD 1, primum atrial septal

defect; ASD 2, secundum atrial septal defect. (Part B used with permission from Emily Flynn McIntosh, illustrator.)

IVC

SVC

PA Ao

RV LV

RA LA

PV

SVC

IVC

Atrial Septal Defect

Ao PA

LA

Left

PVs

Right

PVs

x+y

x+y

x+y

x

x

x

y

x

x

x+y

x+y

x+y

LV

RV

RA

x

y

x x+y

ASD

ASD

x

A

Sinus

venosus

defect

ASD 1°

ASD 2°

B

septum but, rather, a defect between either the right superior vena

caval–atrial junction and the right upper pulmonary vein(s) or, less

commonly, the inferior vena caval–atrial junction and the right lower

pulmonary veins. Surgical closure is required for primum ASDs, sinus

venosus defects, and coronary sinus septal defects.

Partial Anomalous Pulmonary Venous Return Partial anomalous pulmonary venous return (PAPVR) is occasionally discovered

in adults with right heart dilation or incidentally on cross-sectional

imaging (Fig. 269-3). There are several possible anomalous connections, with the most common being a left upper pulmonary vein to

an ascending vertical vein into the innominate vein or the right upper

pulmonary vein draining to the superior vena cava. In the latter case,

careful attention should be paid to ensure that there is not an associated

sinus venosus defect. Concomitant pulmonary hypertension can occur

but is uncommon. Symptomatology may be absent, and a decision to

repair isolated PAPVR should include variance in anatomy, lung ventilation and perfusion, hemodynamic response to shunt, symptoms, and

surgical experience.

Ebstein Anomaly Ebstein anomaly (Fig. 269-4) is the result of

embryologic failure of delamination, or “peeling away,” of the tricuspid

valve leaflets from the ventricular myocardium, resulting in adherence

of the valve leaflets to the underlying myocardium. This results in a

wide variety of abnormalities, including apical and posterior displacement of the dilated tricuspid valve annulus, dilation of the “atrialized”

portion of the RV, and fenestrations, redundancy, and tethering

typically of the anterior leaflet of the tricuspid valve. The malformed

tricuspid valve is usually regurgitant, but may occasionally be stenotic.

The clinical presentation of Ebstein anomaly in the adult depends on

several factors, including the extent of tricuspid valve leaflet distortion, degree of tricuspid regurgitation (TR), right atrial pressure, and

presence of an atrial level shunt. The physical examination of a patient

with Ebstein anomaly may vary depending on the severity of disease.

In more severe cases, the first heart sound may be split and the second

component of the first heart sound may have a distinctive snapping

quality (known as the sail sign, due to the redundancy of the anterior

tricuspid valve leaflet). Patients with significant TR may have prominent “v” waves of the jugular venous pulsations; however, this finding

is often absent due to abnormal right atrial compliance. The ECG is

often abnormal, with right atrial and ventricular enlargement. Up to

20% of patients have evidence of ventricular preexcitation (WolffParkinson-White pattern). Surgical treatment includes a tricuspid

valve repair or replacement, closure of any atrial level defects, and

arrhythmia ablative procedures.

Shunt Lesions Causing Left Heart Dilation Intracardiac

shunts or intravascular passages that occur below the level of the tricuspid valve result in left heart dilation. The two major types of congenital

shunts that result in left heart dilation are a ventricular septal defect

(VSD; Fig. 269-5A) and patent ductus arteriosus (PDA; Fig. 269-6).

Ventricular Septal Defects VSDs are the most common congenital anomaly recognized at birth; however, they account for only ~10%

of CHD in the adult, due to the high rate of spontaneous closure of

small VSDs during the early years of life. Large VSDs usually cause

symptoms of heart failure and poor somatic growth and are most often

surgically closed before adulthood. Several classification systems for

VSDs exist. Figure 269-5B illustrates various locations of VSDs; the

most common location is in the membranous septum (also referred

to as perimembranous or outlet defects). Muscular defects that persist

into adult life are often pressure and flow restricted, resulting in no

significant hemodynamic consequence. AV canal defects, also referred

2012 PART 6 Disorders of the Cardiovascular System

SVC

x IVC

SVC

PA Ao

RV LV

RA LA

PV

x+y x

x

x

x+y

x+y

x+y

y

x

IVC

Partial Anomalous

Pulmonary Venous Return

Ao PA

LA

Left

PVs

Right

PVs

APV

APV

x+y

x+y

x

x

x+y

LV

RV

RA

y

x

FIGURE 269-3 Partial anomalous pulmonary venous return. In the presence of an anomalously draining

pulmonary vein (typically to a systemic vein such as the left innominate vein, SVC, or rarely IVC), an

obligate “shunt” of flow (“y”) of “red” (oxygenated) blood from the affected pulmonary vein to the right

heart (deoxygenated) ensues. Systemic venous return of pure deoxygenated blood (“x”) is increased by the

oxygenated shunted blood (“y”) to increase volume of blood (“x + y”) in the SVC, RA, RV, and total blood flow to

the lungs. If the volume or the sequelae of the shunted blood is sufficient, RA and RV can dilate (hashed lines),

or shortness of breath can ensue. Ao, aorta; APV, anomalous pulmonary vein; IVC, inferior vena cava; LA, left

atrium; LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; RA, right atrium; RV, right ventricle; SVC,

superior vena cava.

the VSD. Up to 10% of patients with TOF have

an anomalous coronary artery, most commonly,

an anomalous left anterior descending coronary

artery from the right coronary cusp. Patients

with an anomalous coronary as well as those with

TOF/PA may require an RV-to-PA conduit.

Adults with repaired TOF often have hemodynamic sequelae that may require reintervention

in adulthood (Table 269-4). Pulmonary regurgitation is common following TOF repair and

is usually associated with RV dilation. Accurate

quantification of RV size, function, and mass is

particularly important in adults after repair of

TOF, as RV dilation, dysfunction, and hypertrophy are associated with adverse outcomes in

these patients. Patients may also have residual

RVOT obstruction, which may occur beneath

the pulmonary valve, at the valve level, above

the valve, or in the branch PAs. Cardiac magnetic resonance imaging is routinely used in the

surveillance of these patients. Left ventricular

dysfunction is present in at least 20% of adults

with repaired TOF, particularly those who were

repaired later in life, had prior palliative shunts,

or have concomitant RV dysfunction.

As patients age with repaired TOF, both atrial

and ventricular arrhythmias occur with increasing frequency. A QRS duration on a resting ECG

of 180 ms or more has been associated with

increased risk of ventricular tachycardia and

sudden death in this patient population. In one

prospective follow-up study of 144 adults with repaired TOF, there was

a 72% survival at 40 years, but only a 25% cumulative event-free survival. These events include need for reintervention (most commonly

pulmonary valve replacement [PVR]), symptomatic arrhythmias, and

heart failure.

to as inlet defects, are located in the crux of the heart and are associated

with abnormalities of the AV valve leaflets. Subpulmonary defects, also

known as conal septal defects, are commonly associated with prolapse

of the right coronary cusp and aortic insufficiency. The outcome for

adults with small VSDs without evidence of ventricular dilation or

pulmonary hypertension is generally excellent.

Patent Ductus Arteriosus A PDA courses

between the aortic isthmus and the origin of one

of the branch PAs. Small PDAs are often silent

to auscultation and do not cause hemodynamic

changes. The classic murmur is heard best just

below the left clavicle and typically extends from

systole past the second heart sound into diastole,

reflecting flow turbulence and gradient between

the aorta and the PAs (resulting in left-to-right

shunting). Large PDAs will lead to left heart dilation and may lead to chronically elevated pulmonary vascular resistance, including the potential

for ES.

■ MODERATE AND COMPLEX CHD

Tetralogy of Fallot Tetralogy of Fallot (TOF) is

the most common form of cyanotic CHD, occurring

in 0.5 per 1000 live births. It involves anterior deviation of the conal septum, resulting in RV outflow

tract (RVOT) obstruction, a VSD, RV hypertrophy,

and an overriding aorta (Fig. 269-7A, B). There is a

large spectrum of severity of disease in TOF, from

patients who have only mild pulmonary stenosis to

those with complete pulmonary atresia (TOF/PA).

Current surgical strategies involve primary repair

in infancy (Fig. 269-7C); however, many adults

may have first undergone palliative procedures

(Blalock-Taussig, Potts, Waterston shunts) prior

to a complete repair. The goal of surgical repair

is to alleviate the pulmonary stenosis and close

y

SVC

IVC

PA Ao

RV

LV

RA LA

PV

Left

PVs

Right

PVs

x+y x+z

y *

x+z

x+z

x+y

x

x x

PFO

SVC

IVC

Ebstein Malformation

Ao PA

LA

x+y

x+z

x+z

x+y

LV

RV

RA

x

PFO

x+z x

z

z

FIGURE 269-4 Ebstein malformation. In the presence of Ebstein anomaly, the tricuspid valve leaflets can be

redundant, fenestrated, and sail-like (typically seen in the anterior leaflet *) or adherent to the underlying

myocardium with apical displacement of the nonadherent components (typically the septal and posterior

leaflets). Location and degree of leaflet coaptation are variable and account for varying degrees of tricuspid

regurgitation, shift of the functional tricuspid valve anterior from the anatomic annulus into the right

ventricle, “atrialization” of the right ventricle, and most commonly angulation of the tricuspid valve into the

RV outflow tract. RA and RV dilation (hashed lines) can occur due to the effects of combined volume from

systemic venous return (“x”) and tricuspid regurgitant flow (“y”). PFO is frequent; worsening compliance and

elevation of pressure in the RA as compared to the LA can lead to increasing “right-to-left” (deoxygenated

to oxygenated) shunt and cyanosis. RV myocardial function may be abnormal. Ao, aorta; IVC, inferior vena

cava; LA, left atrium; LV, left ventricle; PA, pulmonary arteries; PFO, patent foramen ovale; PV, pulmonary

veins; RA, right atrium; RV, right ventricle; SVC, superior vena cava; *, anterior tricuspid valve leaflet.

Congenital Heart Disease in the Adult

2013CHAPTER 269

FIGURE 269-5 A. Ventricular septal defect. In the presence of a ventricular septal defect, the difference in pressure and outflow resistance in systole (and the difference in

compliance in diastole) between the RV and LV, combined with the size of the defect itself, allow for a “shunt” of flow (“y”) of “red” (oxygenated) blood from the left side of

the heart to the right side (deoxygenated). Systemic venous return of pure deoxygenated blood (“x”) is increased by the oxygenated shunted blood (“y”) to increase volume

of blood (“x + y”) through the outflow of the RV into the lungs, and in the left atrium and left ventricle. If the volume or the sequelae of the shunted blood are sufficient, LA and

LV can dilate (hashed lines), and arrhythmias or shortness of breath (and occasionally pulmonary hypertension) can ensue. Ao, aorta; IVC, inferior vena cava; LA, left atrium;

LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; RA, right atrium; RV, right ventricle; SVC, superior vena cava; VSD, ventricular septal defect. B. Diagrammatic

representation of the location of various ventricular septal defects. AV, atrioventricular. (Part B used with permission from Emily Flynn McIntosh, illustrator.)

SVC

x

y

IVC

SVC

PA Ao

RV LV

RA LA

PV

x x+y

x+y y

x

x

x+y

x x+y

IVC

Ventricular Septal Defect

Ao PA

LA

Left

PVs

Right

PVs

x

x

x x+y

x+y

x+y

LV

RV

RA

VSD

A Muscular

AV canal

type

Membranous

Subpulmonary

B

The most common reintervention in a repaired TOF patient is

a PVR. However, optimal timing of PVR in these patients remains

unclear. Although PVR has been shown to decrease RV volumes and

subjectively improve symptoms, it has not been proven to result in an

improved ejection fraction or less adverse outcomes, such as ventricular arrhythmias or death. Traditionally, PVR has been accomplished

with a surgical procedure; however, percutaneous implantation of

pulmonary valves is becoming increasingly utilized in clinical practice.

Patients with repaired TOF may also undergo interventions including closure of residual VSDs, dilation and/or stenting of the RVOT or

branch PAs, and tricuspid valve repair. Patients with clinically significant arrhythmias may benefit from catheter ablation.

Transposition of the Great Arteries Transposition of the great

arteries (TGA) is defined by the great arteries arising from the opposite

side of the ventricular septum than normal; as such, the aorta arises

from the RV and the PA from the LV. The more common form of TGA,

known as D-loop TGA, involves AV concordance and ventriculararterial discordance, resulting in a physiology that allows two circuits

to be in parallel rather than in series (Fig. 269-8A) and intense cyanosis shortly after birth. This physiology is not compatible with long-term

survival without surgical intervention. Patients with TGA may be born

with additional congenital defects (most commonly a VSD).

The surgical repairs for D-loop TGA have evolved over time. In the

late 1950s through the 1970s, the atrial switch procedure (Mustard,

Patent Ductus Arteriosus

SVC

IVC

PA

PDA

Ao

LA

x

x+y

x+y

x+y

x LV

RV

RA

x

y

Left

PVs

Right

PVs

IVC

PDA

SVC

RA LA

PV

x x+y

RV LV

x

x x+y

x+y

x

y

x+y

x x+y

PA Ao

x

FIGURE 269-6 Patent ductus arteriosus. In the presence of a patent ductus arteriosus, the difference in pressure and resistance in both systole and diastole between the

pulmonary arteries and the aorta, combined with the size of the ductus itself, allow for a “shunt” of flow (“y”) of “red” (oxygenated) blood from the aorta to the pulmonary

arteries (deoxygenated). Systemic venous return of pure deoxygenated blood (“x”) is increased by the oxygenated shunted blood (“y”) to increase volume of blood

(“x + y”) in the lungs, the left atrium, the left ventricle, and out the aortic valve. If the volume or the sequelae of the shunted blood are sufficient, LA and LV can dilate (hashed

lines), and arrhythmias or shortness of breath (and occasionally pulmonary hypertension) can ensue. Ao, aorta; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA,

pulmonary arteries; PDA, patent ductus arteriosus; PV, pulmonary veins; RA, right atrium; RV, right ventricle; SVC, superior vena cava.

2014 PART 6 Disorders of the Cardiovascular System

Senning procedures) was performed (Fig. 269-8B). These atrial switch

procedures relieved the cyanosis but left the patient with a systemic RV.

Despite moderate-term survival over decades, there are multiple longterm sequelae that may present following the atrial switch procedure.

The most worrisome complication is that of systemic RV dysfunction. The prevalence of RV dysfunction in this population is not well

defined. Limited study has failed to reveal medical therapies effective

for systemic RV dysfunction.

A subset of patients with D-loop TGA, VSD, and PS may have

undergone a Rastelli procedure. This intervention involves placing an

RV-to-PA conduit and routing the LV to the aorta through the VSD,

which results in relief of cyanosis and the benefit of a systemic LV.

In the 1980s, the arterial switch operation (ASO; Fig. 269-8C)

became the surgical procedure of choice for D-loop TGA. This procedure involves transecting the great arteries above the sinuses and placing the PAs anteriorly to come into alignment with the RV, resulting in

FIGURE 269-7 A. Tetralogy of Fallot involves anterior and superior malalignment of a bar of tissue (conal septum) (see * in part B, which presents a cut-away view through

the anterior surface of the RV, into the RV outflow), partially obstructing the right ventricular outflow (under the pulmonary valve, i.e., “subpulmonary stenosis”; labeled as

1), and leaving a gap in the interventricular septum (VSD). The pulmonary valve annulus is typically hypoplastic. Outflow obstruction prevents regression of right ventricular

hypertrophy (#

), which was present in utero. The difference in pressure and outflow resistance in systole (and the difference in compliance in diastole) between the

obstructed RV and the LV allows for a “shunt” of flow (“y”) of “blue” (deoxygenated) blood from the right side of the heart to the left side (oxygenated). Systemic venous

return of pure deoxygenated blood (“x”) is decreased by the shunted blood (“y”), leading to a total decrease in the volume of blood (“x – y”) passing beyond into the lungs.

The deoxygenated shunted blood (“y”) mixes with fully oxygenated blood in the LV, contributing to systemic arterial cyanosis. C. Tetralogy of Fallot—repaired. After modern

repair of tetralogy of Fallot, VSD has been patched closed, and outflow tract obstruction has been surgically removed, frequently at the expense of a patch enlarging

the pulmonary valve annulus at the expense of sacrificing the integrity of the pulmonary valve (causing pulmonary regurgitation). The pulmonary regurgitant volume

(“y”) is added to systemic venous return (“x”), contributing to RV chamber enlargement (hashed lines) and may be associated with tricuspid annular dilation and valve

regurgitation, resulting in RA enlargement. Ao, aorta; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; RA, right atrium;

RV, right ventricle; RVH, right ventricular hypertrophy; SVC, superior vena cava; VSD, ventricular septal defect.

A

IVC

RVH

SVC

PA Ao

RV LV

RA LA

PV

x x-y

x-y

x

x

x-y

x x-y

VSD

SVC

IVC

Tetralogy of Fallot (unrepaired)

Ao PA

LA

Left

PVs

x

x

x-y

x-y

x-y

x-y

x

y

y

LV

RV

RA

x

Right

PVs

*

#

#

* VSD

1

B

Conal Anatomy

* 1

SVC

IVC

Tetralogy of Fallot (repaired)

Ao PA

LA

Left

PVs

Right

PVs

x

x+y

y

x

x

x+y

LV

RV

RA

x x x

VSD

patch

VSD

patch

IVC

SVC

PA Ao

RV LV

RA LA

PV

x+y x

x

x

x+y

x+y

x x

C

x

Congenital Heart Disease in the Adult

2015CHAPTER 269

draping of the branch PAs over the ascending aorta. A coronary artery

translocation is performed. The ASO has resulted in substantial longterm survival.

The potential long-term sequelae of the various surgical procedures

for D-loop TGA are listed in Table 269-5.

The less common form of TGA, known as L-loop TGA (physiologically corrected or “congenitally corrected” TGA; Fig. 269-9), may not

require surgical intervention but is presented here in relation to other

forms of TGA. L-loop TGA involves both AV discordance (RA allowing passage of deoxygenated systemic venous return to the LV, and

conversely, the left atrium conducting oxygenated pulmonary venous

blood to the RV) as well as ventriculoarterial discordance (connections

of LV to PA, RV to aorta). This results in normal arterial oxygen saturation, yet an RV associated with the aorta. Patients with L-loop TGA

commonly have associated congenital anomalies, including dextrocardia, ASDs, a dysplastic tricuspid valve, and pulmonary stenosis. Conduction disturbances are common, and complete heart block occurs in

up to 30% of patients. Those patients without associated defects may

not present until later in life, most commonly with heart failure, TR, or

newly recognized conduction disease.

Coarctation of the Aorta Adults with coarctation of the aorta

(Fig. 269-10) typically have a shelf-like obstruction at the level of the

descending aorta that passes just posterior to the junction of the main

and left PA; obstruction less commonly involves the transverse aortic

arch. On physical examination, the lower extremity blood pressure

and pulses are lower than (and delayed in timing, in contrast to) the

upper extremity values, unless significant aortic collaterals have developed. A continuous murmur over the scapula may be present due to

the collateral blood flow. Significant coarctation increases afterload

to all proximal structures in the path of oxygenated blood, from LV

and coronary arteries, to ascending and transverse aorta, to cerebral

and arm vessels and proximal descending aorta. Bicuspid aortic valve

(typically with right-left commissural fusion) is a common association.

In women with short stature, webbed neck, lymphedema, and primary

amenorrhea, a concomitant diagnosis of Turner syndrome should be

considered, the presence of which indicates greater degree of, and

risks from, sequelae from seemingly similar anatomy and physiology.

Patients who have undergone surgical repair in general have a good

prognosis; however, they remain at risk for systemic hypertension,

premature atherosclerosis, LV failure, and aortic aneurysm, dissection,

and recurrent coarctation.

TABLE 269-4 Potential Sequelae of Repaired Tetralogy of Fallot

Right atrial dilation

Right ventricular dilation

Right ventricular dysfunction

Right ventricular outflow tract obstruction

Pulmonary regurgitation

Branch pulmonary artery stenosis

Tricuspid regurgitation

Residual ventricular septal defect

Left ventricular dysfunction

Aortic root dilation

Atrial arrhythmias

Ventricular arrhythmias

Sudden cardiac death

FIGURE 269-8 A. Transposition of the great arteries. When the great arteries are transposed, the aorta arises from the RV, and the pulmonary artery arises from the LV,

leaving deoxygenated blood circulating from systemic veins to systemic arteries in separated fashion from oxygenated blood, which circulates from pulmonary veins to

pulmonary arteries. Without interchamber or intravascular communications, this circulation is incompatible with life. Presence of an atrial septal defect (ASD), depicted

here, ventricular septal defect (VSD), or patent ductus arteriosus (PDA) allows for some interchamber or intravascular mixing and, at best, partial relief of cyanosis and

sustenance of life, at the expense of increased pulmonary blood flow. B. Atrial switch. Atrial level switch procedures (Mustard and Senning) were the first standardized

surgeries to alter the natural course of complex congenital heart disease, utilizing intracardiac rerouting via a “baffle” to redirect blood flow. The atrial switch simulates

inverted trousers, with each “pants leg” (*) attaching to either the SVC or the IVC, transporting deoxygenated blood through the interior of the trousers to the “waist of

the trousers” and directing blood through the mitral valve to the LV and out the PA. Surgical removal of the atrial septum allows pulmonary venous return to traverse from

posterior left atrium through the space between the pants legs of the baffle, through the tricuspid valve to the RV (serving as the “systemic ventricle,” i.e., that pumps to

the systemic arterial circulation), and out the aorta. Non-infrequent sequelae include sinus node dysfunction, atrial arrhythmias, systolic dysfunction of the RV, tricuspid

regurgitation (from RV to LA), leaks in the baffle material allowing shunting of blood, and obstruction of the systemic or pulmonary venous baffles. C. Arterial switch. The

arterial switch operation allowed both anatomic and physiologic correction for D-loop transposition of the great arteries. Successful surgical switching of the PA and the

Ao above the level of the native roots (hashed lines) necessitated ability to transfer coronary artery origins contained within a button of tissue (*) back to the neo-aorta

(now supported by the LV). Deoxygenated blood flow from SVC and IVC passes from RA to RV to PA, and oxygenated blood passes from PV to LA to LV to Ao. Uncommon

sequelae include obstruction at any of the surgical sites (supravalvar PA or Ao stenosis, coronary orifice obstruction) or more distal obstructions due to tension placed on

the PA, Ao, or coronary arteries. Ao, aorta; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; RA, right atrium; RV, right

ventricle; SVC, superior vena cava.

PA

A

D-loop Transposition

SVC

IVC

LA

LV

RV

RA

Ao PA

Left

PVs

Right

PVs

IVC

SVC

RV LV

RA LA

PV

ASD

Ao

2016 PART 6 Disorders of the Cardiovascular System

PA

B

IVC

SVC

RV LV

LA

PV

Ao

Atrial Switch

SVC

IVC

LA

LV

RV

RA

Ao PA

Left

PVs

Right

PVs

C

Arterial Switch

IVC

SVC

neo

PA

neo

Ao

RV LV

RA LA

PV

LA

SVC

IVC

LV

RV

RA

neo

PA

neo

Ao

oo

oo

Left

PVs

Right

PVs

* *

FIGURE 269-8 (Continued)

Single Ventricle Physiology The term single ventricle heart disease is imprecise but useful in some settings, as it refers to congenital

heart conditions in which one ventricle or its valves preclude surgical

creation of a biventricular circulation. Common congenital diagnoses in this category include tricuspid atresia, double inlet LV, and

TABLE 269-5 Long-Term Sequelae of D-Loop TGA Surgery

ATRIAL SWITCH ARTERIAL SWITCH RASTELLI PROCEDURE

Systemic venous baffle Arterial anastomosis

stenosis

Subaortic stenosis

Pulmonary venous baffle Branch PA stenosis RV-PA conduit

obstruction

RV (systemic)

dysfunction

Neo-aortic root dilation Pulmonary regurgitation

Tricuspid regurgitation Neo-aortic regurgitation Ventricular dysfunction

Baffle leaks Coronary artery stenosis

LVOT obstruction (PS) LV dysfunction

Abbreviations: LV, left ventricle; LVOT, left ventricular outflow tract; PA, pulmonary

artery; RV, right ventricle; TGA, transposition of the great arteries.

hypoplastic left heart syndrome. Most patients with single ventricle

physiology undergo a series of surgeries culminating in a Fontan procedure (Fig. 269-11A, B). Since its initial use for tricuspid valve atresia

in 1971, multiple modifications of this procedure have occurred, with

common features of near complete separation of the pulmonary and

systemic circulations. The Fontan procedure utilizes the single ventricle to pump pulmonary venous (oxygenated) blood through the aorta

to the body and allows for “passive” flow of systemic venous return

of deoxygenated blood through surgically created connections to the

lungs. Patients who have undergone a Fontan procedure are at risk

for multiple comorbidities in adulthood, including atrial arrhythmias,

heart failure, renal and hepatic dysfunction, and both venous and arterial thrombosis and embolism.

■ UNREPAIRED CYANOTIC CHD

Eisenmenger Syndrome ES is felt to be the consequence of a

long-standing high-volume or pressurized left-to-right shunt in which

excessive blood flow to the pulmonary vasculature leads to severely

increased pulmonary vascular resistance that eventually results in

reversal of the shunt, creating bidirectional or right-to-left flow. ES is a

Congenital Heart Disease in the Adult

2017CHAPTER 269

Congenitally (L-loop transposition)

Corrected TGA

SVC

IVC

LA

RV

LV

RA

PA Ao

Left

PVs

Right

PVs

IVC

SVC

PA Ao

LV RV

RA LA

PV

FIGURE 269-9 Congenitally corrected transposition of the great arteries. Physiologically corrected transposition of the great arteries (also known as congenitally corrected

transposition of the great arteries) is characterized by atrioventricular discordance and ventriculoarterial discordance. Systemic venous blood passes from the right atrium

(RA) through the mitral valve into the morphologic left ventricle (LV) to the pulmonary artery (PA). Oxygenated blood then returns to the lungs to the left atrium (LA) through

the tricuspid valve into the morphologic right ventricle (RV) and then out the aorta (Ao). IVC, inferior vena cava; PV, pulmonary veins; SVC, superior vena cava.

PA *

Ao

Coarctation of the Aorta:

Sequelae/Associations

RA

LA

LV

RV

3

2

6

4

1

5

FIGURE 269-10 Aortic coarctation (*). Bicuspid aortic valve (1) is most common

concomitant lesion. Sequelae from aortic coarctation (unrepaired or repaired)

include systemic arterial hypertension, ascending (2) or descending (3) aortic

enlargement or aneurysm formation, left ventricular (LV) hypertrophy (4), LV diastolic

and systolic heart failure, accelerated coronary (5) or cerebral (6) atherosclerosis,

cerebral aneurysm formation, and recurrence of coarctation after repair. Ao, aorta;

PA, pulmonary arteries.

multiple-organ condition and may occur with any CHD with an initial

left-to-right shunt. The natural history of ES is variable, and although

there is significant morbidity, in general, adults with ES appear to

survive longer than those with other forms of pulmonary arterial

hypertension. Medical care recommendations have included sustaining adequate hydration, avoiding and treating anemia including iron

supplementation when appropriate, and anticoagulation (although this

remains controversial due to predisposition to bleeding and occurrence

of clinical hemoptysis, which has frequently been associated with

pulmonary vascular thrombosis). Elevation of hematocrit above that

considered appropriate for the degree of cyanosis can be managed in

symptomatic patients by hydration alone or, on occasion, by performing phlebotomy with isovolumic replenishment. Routine phlebotomy

in the asymptomatic adult with ES is contraindicated. Appropriate

optimization of iron stores has been demonstrated to improve quality

of life and functional performance in iron-deficient adults with ES.

Contraception for women with ES who are of childbearing age is

strongly recommended, avoiding use of estrogen, which may be thrombogenic. Pregnancy is contraindicated in these women due to the high

risk of maternal mortality.

Recent evidence suggests that the use of selective pulmonary vasodilators, such as bosentan or sildenafil, may be efficacious in ES. Select

patients may be candidates for combined heart–lung transplantation or

preferably lung transplantation with concomitant repair of the intracardiac defect, if feasible.

The Role of Palliative Care in ACHD In aggregate, adults

with CHD demonstrate both quality-of-life–limiting comorbidities

and premature mortality far in excess of age-matched controls. The

reported prevalence of pain, anxiety, depression, dyspnea, and fatigue

appears similar to that reported for adults who are decades older and

engaged in palliative care for acquired cardiovascular disease at end

of life (EOL). Similarly, at EOL with ACHD, frequencies of hospitalization, intensive care admission, 30-day readmission, and increased

length of hospital stay appear greater (despite younger age) than for

adults with cancer. In a retrospective study of ACHD patients who

died during a hospital admission, only a minority had engaged in EOL

discussions with their providers. Surveys of both adults with CHD and

their providers suggest that the overwhelming majority of patients wish

to participate in advanced care planning and discussion of palliative

care; this contrasts with statements from ACHD care providers noting

their uncertainties regarding EOL prognostication and concerns over

discussion about EOL. Palliative care specialists who are embedded

within or aligned with ACHD care teams can play an important and

iterative role in defining and addressing alignment of patient and clinician goals within the boundaries of frequently complex care decisions

over the adult life span.

Global Considerations As survival patterns improve for all

medically complex patients, the internist and general practitioner are

faced with particular challenges and dilemmas; foremost is accrual of