With breath held in inspiration or expiration

Dynamic auscultation

Tricuspid area

S1

S2

S3, S4

OS/clicks

Murmur

Timing

Grade

Quality

Pitch

Configuration

Radiation

Best heard with diaphragm or bell

Patient positon

With breath held in inspiration or expiration

Dynamic auscultation

Erb’s neo aortic area

S1

S2

S3, S4

OS/clicks

Murmur

Timing

Grade

Quality

Pitch

Configuration

Radiation

Best heard with diaphragm or bell

Patient positon

With breath held in inspiration or expiration

Dynamic auscultation.

(R) 2nd intercostal space (aortic area)

S1

S2

S3, S4

OS/clicks

Murmur

Timing

Grade

Quality

Pitch

Configuration

Radiation

Best heard with diaphragm or bell

Patient positon

9.

10.

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2.

3.

4.

5.

6.

7.

8.

9.

10.

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With breath held in inspiration or expiration

Dynamic auscultation.

(L) 2nd intercostal space (pulmonary area)

S1

S2

S3, S4

OS/clicks

Murmur

Timing

Grade

Quality

Pitch

Configuration

Radiation

Best heard with diaphragm or bell

Patient positon

With breath held in inspiration or expiration

Dynamic auscultation.

Other areas

Axilla

Epigastrium

Clavicle

Carotid

Back (interscapular area)

OTHER SYSTEM EXAMINATION

Respiratory:

Inspection:

Palpation:

Percussion:

Auscultation :

Gastrointestinal system:

Inspection:

Palpation:

Percussion:

Auscultation :

Nervous system:

Higher mental functions:

Cranial nerves:

Sensory system:

Motor system:

Reflexes:

Cerebellar system:

Meningeal signs:

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B. DIAGNOSIS FORMAT

ACQUIRED/CONGENITAL HEART DISEASE

For Acquired Heart Disease

Acquired heart disease possible etiology (rheumatic/ischemic/cardiomyopathy/degenerative)

Valvular involvement (MS/MR/AS/AR/others) with severity grading

With/without evidence of pulmonary artery hypertension (grading)

Patient in or not in atrial fibrillation (if AF present look for signs of thromboembolism)

With or without evidence of heart failure (right/left/congestive)

With or without signs of infective endocarditis

With or without signs of active rheumatic carditis

Patient is in NYHA (New York Heart Association) class (I/II/III/IV)

Example: Acquired valvular heart disease, possibly rheumatic etiology, with severe mitral stenosis and

moderate mitral regurgitation, with severe pulmonary artery hypertension, patient in atrial fibrillation and

congestive cardiac failure, with no signs of infective endocarditis, thromboembolism or active rheumatic

carditis. Patient is in NYHA class III.

For Congenital Heart Disease

Congenital cyanotic/acyanotic heart disease

Type of defect (shunt/obstructive)

With/without evidence of pulmonary artery hypertension (grading)

Patient in or not in atrial fibrillation (if AF present look for signs of thromboembolism)

With or without evidence of heart failure (right/left/congestive)

With or without signs of infective endocarditis

Patient is in NYHA class (I/II/III/IV).

Note: Mention if any features of dysmorphies or syndromes.

Example: Congenital acyanotic heart disease, atrial septal defect with pulmonary artery hypertension,

with no evidence of eisenmengerisation, patient not in atrial fibrillation, no evidence of heart failure or

infective endocarditis. Patient in NYHA class II. Patient has features of Holt–Oram syndrome.

NOTES

C. DISCUSSION ON CARDIAC CYCLE

SYSTOLE AND DIASTOLE

Fig. 4C.1: Systole and diastole.

In Figure 4C.1, cardiac cycle is represented as cyclical events beginning from S1 and ending back at

S1 in clockwise fashion. Assuming the heart rate of 72 beats/min, each cardiac cycle is of 0.8 seconds

duration. 0.3 seconds is ventricular systole and 0.5 seconds is ventricular diastole. Systole is

represented by S1 to S2 in clockwise direction and diastole is represented by S2 to S1 in clockwise

direction. And these events continuously repeat.

EVENTS OF CARDIAC CYCLE

Fig. 4C.2: Major events during cardiac cycle.

Let us describe the cardiac events in clockwise fashion beginning from S1

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Jugular Venous Pressure Waveform—timing with Other Cardiac Events

Fig. 4C.3: Timing of JVP with cardiac events.

Now, let us superimpose waves of jugular venous pressure (JVP) onto the cardiac cycle. JVP has the

following waves, starting from a, x, c, x’, v, y, and h which repeat in a cyclical fashion. Clinically

appreciable waves are four, two in systole (i.e. “x” descent and “v” wave) and two in diastole (i.e. “y”

descent and “a” wave). The timing of JVP with respect to cardiac cycle has been depicted in Figure

4C.3. The waves in JVP include:

“a” wave It coincides with atrial contraction

It is seen in diastole and

It precedes S1

X wave (initial x descent) It is due to atrial relaxation

It is seen in systole

It follows S1

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C wave It is due to bulge of tricuspid valve

It is seen in systole

Coincides with carotid upstroke

Absent in humans

X’ wave (x descent following ‘c’ wave)

It is due to descent in floor of RA with downward pull of TV with continued ventricular

contraction

It is seen in systole

It follows clicks (if audible)

V wave It is due to atrial filling during ventricular systole

Seen in systole

It precedes S2

Y wave It is due to RA emptying during ventricular diastole

Seen in diastole

It follows opening snaps (if audible)

H wave (Hirschfelder wave) It is positive wave during the diastasis

Seen in diastole

Not clinically appreciable

CARDIAC MURMURS—TIMING WITH OTHER CARDIAC EVENTS (FIG. 4C.4)

Fig. 4C.4: Timing of cardiac murmurs and pictorial representation on the diagram of cardiac cycle.

To remember murmurs:

Note 1: ESM/PSM—due to valve abnormalities of mitral and tricuspid valve (regurgitant lesions); MSM—

due to valve abnormalities of aortic and pulmonary valve (stenotic lesions); LSM—due to prolapse of

mitral and tricuspid valve; EDM—due to valve abnormalities of aortic and pulmonary valve (regurgitant

lesions); MDM—due to valve abnormalities of mitral and tricuspid valve; LSM—atrial myxomas.

Note 2: Early murmurs are regurgitant lesions; Mid murmurs are stenotic lesions; Late murmurs are

prolapse/papillary dysfunction/myxomas

ECG WAVEFORM—TIMING WITH OTHER CARDIAC EVENTS (FIG. 4C.5)

Atrial contraction follows the P wave of the ECG.

Isovolumetric contraction and systole follows the QRS wave of the ECG.

Diastole follows the T wave of ECG.

Fig. 4C.5: Timing of waves of ECG and pictorial representation on the diagram of cardiac cycle.

STANDARD REPRESENTATION OF ALL CARDIAC EVENTS IN CARDIAC

CYCLE (FIG. 4C.6 AND TABLE 4C.1)

Fig. 4C.6: Events of cardiac cycle during systole and diastole (phonogram, electrocardiogram, volumes

and pressure changes).

Table 4C.1: Pressure changes during cardiac cycle.

Pressures (mm Hg)

Right atrium Left atrium

Mean 2 Mean 8

a wave 13

c wave 12

v wave 15

Right ventricle Left ventricle

Peak systolic 30 Peak systolic 130

End-diastolic 6 End-diastolic 10

Pulmonary artery Aorta

Mean 15 Mean 95

Peak systolic 25 Peak systolic 130

End-diastolic 8 End-diastolic 80

Pulmonary capillaries Systemic capillaries

Mean 10 Mean 25

NOTES

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D. DISCUSSION ON CARDINAL SYMPTOMS

CHEST PAIN

Chest pain is a common symptom of cardiac disease. It can be due to noncardiac causes such as

anxiety or diseases involving the respiratory, musculoskeletal or gastrointestinal systems.

Causes of Chest Pain (Fig. 4D.1)

Fig. 4D.1: Causes of chest pain.

Differential Diagnosis of Chest Pain (Table 4D.1)

Table 4D.1: Differential diagnosis of chest pain.

Potentially life-threatening causes Common nonlife-threatening causes

Acute coronary syndromes: Acute myocardial

infarction (MI), ST-segment elevation MI, non-STsegment elevation MI

Unstable angina

Pulmonary embolism

Aortic dissection

Myocarditis (most common cause of sudden

death in the young)

Tension pneumothorax

Acute chest syndrome/crisis in sickle cell anemia

Pericarditis

Boerhaave’s syndrome (perforated esophagus)

Gastrointestinal: Perforated peptic ulcer, acute

pancreatitis, acute cholecystitis

Gastrointestinal

Biliary colic

Gastroesophageal reflux disease

Peptic ulcer disease

Pulmonary

Pneumonia

Pleuritis

Musculoskeletal pain: Costochondritis (Tietze’s syndrome), intercostal myalgia/neuralgia, fracture of the ribs (cough, trauma), secondaries in

the ribs, Bornholm disease

Thoracic radiculopathy: Texidor’s twinge (precordial catch syndrome)

Emotional: Anxiety

Neural: Shingles/herpes zoster

Differential Features of Ischemic Cardiac and Noncardiac Pain (Table 4D.2)

Table 4D.2: Differential features of ischemic cardiac and noncardiac pain.

Features Ischemic cardiac pain Noncardiac pain

Site Central, diffuse Peripheral, localized

Character of pain Tight, squeezing, dull, constricting, choking or ‘heavy’ Sharp, stabbing, catching

Precipitation/provocation Exertion, emotion Spontaneous, not related to exertion

1.

2.

3.

1.

2.

3.

Radiation Jaw/neck/shoulder Usually no radiation

Relieving factors Rest (in less than 5 minutes), nitrates Not relieved by rest or by nitrates

Associated features Breathlessness, diaphoresis Depends on the cause

Differentiating Features of the Common Causes of Chest Pain (Table 4D.3)

Table 4D.3: Differentiating features of the common causes of chest pain.

Disease Description Location Radiation Associations

Acute coronary

syndromes

Crushing,

tightening,

squeezing, or

pressure like

Retrosternal, left

anterior chest or

epigastric

Right (R) or left (L)

shoulder, R or L

arm/hand/jaw

Dyspnea, diaphoresis, nausea

Pulmonary

embolism

Heaviness,

tightness

Whole chest

(massive) or focal

chest (segmental)

None Dyspnea, unstable vital signs, feeling of

impending doom if massive or just

tachycardia, tachypnea if segmental

Aortic dissection Ripping, tearing Midline,

substernal

Interscapular area

of back

Secondary arterial branch occlusion

(paraplegia)

Pericarditis/cardiac

tamponade

Sharp, constant or

pleuritic

Substernal None Fever, dyspnea, pericardial friction rub

Pneumothorax Sudden, sharp,

lancinating,

pleuritic

One side of chest Shoulder, back Dyspnea

Perforated

esophagus

Sudden, sharp,

after forceful

vomiting

Substernal Back Dyspnea, diaphoresis, signs of sepsis

Types of angina

Angina Angina is a symptom of myocardial ischemia that is recognized clinically by its character, its location and its

relation to provocative stimuli

Stable angina Angina is stable when it is not a new symptom and when there is no deterioration in frequency, severity or

duration of episodes

Unstable angina This is a form of acute coronary syndrome. It has at least one of these three features:

It occurs at rest (or with minimal exertion), usually lasting more than 10 minutes

It is severe and of new onset (i.e. within the prior 4–6 weeks)

It occurs with a crescendo pattern (i.e. distinctly more severe, prolonged, or frequent than before)

Variant

angina/prinzmetal

angina

Caused due to coronary vasospasm

Microvascular

angina/cardiac

syndrome X

Angina-like chest pain in the context of normal epicardial coronary arteries on angiography

Episodic angina This syndrome is one in which pains having the characters of angina of effort occur at longer or shorter

intervals

Nocturnal angina Seen in severe aortic regurgitation (AR)

Proposed mechanisms are:

Prolonged diastole at night: Regurgitation time is prolonged

Dilated left ventricular (LV), increased LV mass, increased demand

Diastolic coronary stealing, Venturi effect of AR jet

Angina decubitus It is angina that occurs when a person is lying down (not necessarily only at night) without any apparent

cause. Occurs because gravity redistributes fluids in the body

Second wind, or warm up, angina

Describes patients with ischemic heart disease and exertional angina that forces them to stop; after the first

bout of angina, they are able to continue with minor, or even without any, further symptoms ischemic

1.

2.

3.

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preconditioning and collateral recruitment are proposed mechanisms

Linked angina It is associated with:

Gastroesophageal and duodenal disorders and diseases

Gallbladder disease

Cervical spondylitis

Refractory angina Angina that cannot be controlled with optimal medical therapy and where revascularization is not feasible

Status anginosus It is a clinical term denoting periods of frequently recurring anginal pain at rest, indistinguishable from the

pain of cardiac infarction or from its prodromal manifestation, but without the electrocardiographic and

laboratory evidences of classical cardiac infarction

Vincent’s angina Fusospirochetal infection of the pharynx and palatine tonsils, causing “ulceromembranous pharyngitis and

tonsillitis”

Ludwig’s angina Severe diffuse cellulitis that presents as an acute onset and spreads rapidly, bilaterally affecting the

submandibular, sublingual, and submental spaces

Abdominal

angina

Postprandial pain that occurs in the mesenteric vascular occlusive disease

Angina sine

dolore

A painless episode of coronary insufficiency. It is associated with diabetes mellitus and also called silent

ischemia

Canadian cardiovascular society (CSS) functional classification of angina

Class

I

Ordinary activity (e.g. walking, climbing stairs at own pace) does not bring on angina. Angina occurs only with strenuous,

rapid, or prolonged exertion at work or during recreation

Class

II

Slight limitation of ordinary activity. Symptoms occur when walking or climbing stairs rapidly, walking up a hill, walking up

stairs after a meal, in cold weather, in wind, or when under emotional stress, or only a few hours after waking, and

climbing more than one flight of ordinary stairs at a normal pace and in normal conditions

Class

III

Marked limitation of ordinary activity. Symptoms occur after walking 50–100 yards on the level, or climbing more than one

flight of ordinary stairs in normal conditions

Class

IV

Inability to carry on any physical activity without discomfort. Angina may be present at rest

Angina Equivalents

These are commonly seen in elderly and diabetics (with autonomic neuropathy) where ischemic angina

is absent and they present with:

Shortness of breath

Perspiration/diaphoresis

Syncope

Gastrointestinal (GI) symptoms—upper abdominal pain, nausea, and vomiting

Fatigue

Confusion.

PALPITATIONS

Definition

Palpitation is the term used to describe an uncomfortable increased awareness of one’s own heartbeat

or the sensation of slow, rapid or irregular heart rhythms.

Palpitations do not always indicate the presence of arrhythmia and conversely, an arrhythmia can

occur without palpitations.

Palpitations are usually noted when the patient is quietly resting.

Palpitation can be either intermittent or sustained and either regular or irregular.

A change in the rate, rhythm or force of contraction can produce palpitations.

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Causes of Palpitations (Table 4D.4)

Table 4D.4: Causes of palpitations.

Cardiac causes

Cardiac arrhythmias

Premature atrial and ventricular

contractions

Supraventricular and ventricular

arrhythmias

Structural heart diseases

Atrial myxoma, valvular heart disease

Congenital heart disease, cardiomyopathy

Mitral valve prolapse, pacemaker

Drug induced

Alcohol (use or withdrawal)

Atropine

Amphetamines

Caffeine, nicotine

Cocaine

Beta agonists, theophylline

Psychosomatic disorders

Generalized anxiety, major depression, panic

disorder

Endocrine

Hyperthyroidism, hypoglycemia, pheochromocytoma

High output states

Anemia, beriberi, fever, pregnancy,

thyrotoxicosis

Miscellaneous and idiopathic

Emotional stress, hyperventilation, premenstrual syndrome, strenuous

physical activity

Duration and Frequency of Palpitations

Duration may be either short-lasting or persistent.

Note the onset and offset of palpitations.

Frequency: It may occur daily, weekly, monthly, or yearly.

Types of palpitations

Extrasystolic

palpitations

Ectopic beats, usually produce feelings of “missing/skipping a beat” and/or a “sinking of the heart” interspersed

with periods during which the heart beats normally. Patients report that the heart seems to stop and then start

again. It can often even be seen in young individuals, usually without any disease of the heart, and generally

benign

Tachycardiac

palpitations

These are the rapid fluctuation like “beating wings” in the chest. It may be regular (e.g. in atrioventricular

tachycardia, atrial flutter, or ventricular tachycardia) or irregular or arrhythmic (e.g. in atrial fibrillation)

Anxietyrelated

palpitations

They are usually associated with anxiety epidsodes. They begin and end gradually

Associated Symptoms and Circumstances

Palpitations developing after sudden changes in posture are usually due to orthostatic intolerance or

to episodes of atrioventricular nodal re-entrant tachycardia.

Occurrence of syncope or other symptoms, such as severe fatigue, dyspnea, or angina, in addition to

palpitations, is more common with structural heart disease.

Hypersecretion of natriuretic hormone results in polyuria/postpalpitation diuresis in atrial fibrillation.

Palpitations associated with anxiety or during panic attacks are usually due to sinus tachycardia

secondary to the mental disturbance.

Palpitations may be produced by an increase in the sympathetic drive during physical exercise.

Typical descriptions of palpitations

Flipflopping

in the

chest

Palpitations are sensed as the heart seeming to stop and then start again, producing a pounding or flip-flopping

sensation. This type of palpitation is generally caused by supraventricular or ventricular premature contractions.

Rapid

fluttering

It is due to a sustained ventricular or supraventricular arrhythmia, including sinus tachycardia

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in the

chest

Pounding

in the

neck

An irregular pounding feeling in the neck is caused by atrioventricular dissociation, with independent contraction of

the atria and ventricles, resulting in occasional atrial contraction against a closed tricuspid and mitral valve. This

produces cannon A waves, which are intermittent increases in the “A” wave of the jugular venous pulse. Cannon A

waves may be seen with ventricular premature contractions, third degree or complete heart block, or ventricular

tachycardia (VT)

DYSPNEA

Discussed in detail in section of symptomatology, Chapter 2C.

SYNCOPE

Definition

Syncope is defined as a transient loss of consciousness due to inadequate cerebral blood flow with loss

of postural tone. It is associated with spontaneous return to baseline neurologic function without any

resuscitative efforts.

Presyncope is the term used for lightheadedness in which the individual thinks he/she may black out.

Classical vasovagal syncope: Syncope triggered by emotional or orthostatic stress such as

venipuncture (experienced or witnessed), painful or noxious stimuli, fear of bodily injury, prolonged

standing, heat exposure, or exertion.

Mechanism

Global hypoperfusion of cerebral cortices or focal hypoperfusion of the reticular activating system.

About one-third of individuals may develop a syncopal episode during their lifetime.

Its incidence increases with age (sharp rise at age 70 years).

Cardiac syncope has a high incidence (about 24%) of subsequent cardiac arrest.

Causes of True Syncope (Table 4D.5)

Table 4D.5: Causes of true syncope.

Cardiac causes Noncardiac causes

Cardiac arrhythmias: Ventricular tachycardia, paroxysmal

supraventricular tachycardia, long QT syndrome, Brugada syndrome,

bradycardia (Mobitz type II or 3rd degree heart block)

Structural cardiac or cardiopulmonary disease: Cardiac valvular

disease (AS, MS, PS), obstructive cardiomyopathy, atrial myxoma,

acute aortic dissection, pericardial disease/tamponade, pulmonary

embolus/pulmonary hypertension, acute myocardial

infarction/ischemia

Neurocardiogenic syncope ‘vasovagal or

vasodepressor syncope’: Classical vasovagal

syncope, situational syncope, carotid sinus

syncope, glossopharyngeal neuralgia, micturation

syncope

Orthostatic hypotension: Autonomic failure which may be primary (e.g. pure autonomic failure, multiple system atrophy, Parkinson’s disease with

autonomic failure) or secondary (e.g. diabetic

neuropathy)

Neurovascular syncope: Vascular steal

syndromes

Causes of Pseudosyncope (Box 4D.1)

Box 4D.1: Causes of pseudosyncope.

Seizures.

Metabolic or toxic abnormalities: Hypoglycemia and encephalitis.

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Neurologic syncope: Subarachnoid hemorrhage, transient ischemic attack, complex migraine

headache.

Psychogenic syncope

Drug induced loss of consciousness: Drugs of abuse and alcohol.

PEDAL EDEMA

Definition

Edema is defined as the abnormal fluid accumulation in the interstitial space that exceeds the capacity

of physiological lymphatic drainage. Pedal edema is a common presentation of various systemic and

nonsystemic diseases.

Approach to pedal edema (Flowchart 4D.1)

Site and distribution Whether the pedal edema is unilateral or bilateral

Unilateral edema results mainly due to local causes like deep vein thrombosis (DVT), cellulitis,

compartment syndrome, and filarial lymphatic obstruction

Bilateral pedal edema is mainly due to systemic causes like congestive cardiac failure, anemia, chronic

kidney disease, and chronic liver disease

Duration of illness Short duration of the illness indicates an acute cause like cellulitis, DVT, compartment syndrome, etc.

which usually occurs in 72 hours

Association with

pain

Painless: Edema due to feart failure, hypoproteinemia, and lymphedema

Painful: Deep vein thrombosis and cellulitis. A dull aching type of pain is seen in chronic venous

insufficiency

Variability of edema Venous edema due to congestive cardiac failure and venous insufficiency is aggravated by standing

and improves with overnight limb elevation during sleep

Idiopathic edema which is seen in females and increases throughout the day due to upright posture

History of systemic

illness

Symptoms of systemic diseases like exertional dyspnea, orthopnea, paroxysmal nocturnal dyspnea,

and chest pain point to cardiac failure

History of oliguria and puffiness of face suggest renal etiology

Long-term alcohol consumption, yellowish discoloration of eyes and urine, and abdominal distension

points to cirrhosis of liver

Symptoms of endocrine disorders like hypothyroidism are often missed

Similar history about all other systemic causes of pedal edema should be elicited in detail

Patients who are bed ridden for a prolonged period of time have dependent edema over the sacral area

History of drug

intake

Drugs like calcium channel blockers, nonsteroidal anti-inflammatory drugs (NSAIDs) and steroids

History of trauma

and radiation

Trauma and radiation can cause cellulitis and compartment syndrome leading to pedal edema

Miscellaneous

causes

Obstructive sleep apnea can also cause pedal edema due to right ventricular failure

Flowchart 4D.1: Algorithm for approach to pedal edema.

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Other Symptoms

Symptoms of low cardiac output: Fatigue, dizziness, and syncope

Symptoms of pulmonary hypertension: Exertional fatigue, exertional chest pain, and exertional

dyspnea

Fever: Rheumatic fever and infective endocarditis

Symptoms of heart failure: Fatigue, anorexia, weight gain, leg swelling, exertional fatigue,

decreased urine output, perspiration, confusion, cough, hemoptysis, and wheezing.

NOTE

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E. DISCUSSION ON EXAMINATION

GENERAL EXAMINATION

Vitals

Pulse, blood pressure and jugular venous pressure:

(Discussed in detail in chapter 2B).

Anthropometry:

(Discussed in the chapter 2D).

Physical Examination

Signs of infective endocarditis (Figs. 4E.1A to F):

Fever

Pallor

Clubbing

Splinter hemorrhages

Mucosal petechiae

Janeway lesions

Osler’s nodes

Roth spots on fundus.

Signs of rheumatic fever:

Fever

Arthritis

Erythema marginatum

Subcutaneous nodules

Tachycardia.

Figs. 4E.1A to F: Signs of infective endocarditis: (A) Clubbing; (B) Petechiae; (C) Subconjunctival

hemorrhage; (D) Roth spots; (E) Osler’s nodes; (F) Echocardiography showing vegetation.

Stigmata of congenital heart disease

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Syndrome Cardiac defects Other features

Down syndrome

(trisomy 21) (CHILD

HAS MANY

PROBLEM)

ECD, VSD Cataract

Hypotonia

Hypothyroidism

Increased gap between 1st and 2nd toe (sandal gap)

Leukemia

Duodenal atresia

Hirschsprung’s disease

Alzheimer’s disease

Simian crease

Mental retardation

Micrognathia

Atlantoaxial instability

Nystagmus

Protruding tongue

Poor hearing

Round face

Respiratory infections

Occiput is flat

Oblique palpebral fissure

Brushfield spots

Brachycephaly

Low nasal bridge

Language problem

Epicanthic fold

Ear folded

Mongolian slant

Myoclonus

Marfan syndrome Aortic aneurysm, aortic

and/or mitral regurgitation

Arachnodactyly with hyperextensibility, subluxation of lens and other joint

deformities

William’s syndrome Supravalvular AS

PA stenosis

Varying degrees of mental retardation, so-called elfin facies (consisting of

some of the following: upturned nose, flat nasal bridge, long philtrum, flat malar area, wide mouth, full lips, widely spaced teeth, periorbital fullness),

hypercalcemia of infancy

Rubella syndrome PDA and pulmonary

stenosis

Triad of the syndrome: Deafness, cataract, and CHDs

Others include: Intrauterine growth retardation, microcephaly, microphthalmia, hepatitis, neonatal thrombocytopenic purpura

Noonan’s syndrome

(Turner-like

syndrome)

PS (dystrophic pulmonary

valve), LVH (or anterior

septal hypertrophy)

Similar to Turner’s syndrome but may occur in phenotypic male and without

chromosomal abnormality

LEOPARD

syndrome (multiple

lentigines

syndrome)

PS, HOCM, long PR

interval

Lentiginous skin lesion, ocular hypertelorism, pulmonary stenosis, abnormal

genitalia, retarded growth, deafness

Holt-Oram

syndrome

(cardiac-limb

syndrome)

ASD, VSD Defects or absence of thumb or radius

Ellis–van Creveld

syndrome

(chondroectodermal

dysplasia)

ASD, single atrium Short stature of prenatal onset, short distal extremities, narrow thorax with

short ribs, polydactyly, nail hypoplasia, neonatal teeth

DiGeorge syndrome Interrupted aortic arch,

truncus arteriosus, VSD,

PDA, TOF

Hypertelorism, short philtrum, down slanting eyes, hypoplasia or absence of

thymus and parathyroid, hypocalcemia, deficient cell-mediated immunity

Cornelia de Lange’s

(de Lange’s)

VSD Hirsutism, prenatal growth retardation, microcephaly, anteverted nares,

downturned mouth, mental retardation

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