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Step 1: Detection of the Physical Signs

General Observations

Is the patient excessively tall or short? Body build should be noted. Is the patient alert or somnolent? Are there any abnormalities in the gait? Note the clothing for evidence of weight change or tobacco use.


Are there any facial features to suggest a collagen or endocrine disorder such as butterfly eruption or exophthalmos, respectively? A mask-like face may suggest parkinsonism, scleroderma, or myotonia dystrophica, whereas a vacant expression suggests Down syndrome.

Are the eyes widely spaced apart (hypertelorism)? Do the conjunctiva appear pale or brick red? Are there any xanthelasma, waxy eyelid plaques, or drooping eyelids? Is the sclera discolored (e.g., blue or yellow)? Is there an Argyll Robertson pupil or subluxation of the lens? Is there an arcus corneae (unilateral or bilateral)? Fundi should be checked for hypertension, diabetes, dyslipidemias, or embolic changes because of carotid artery disease or IE.

Is there unilateral temporal artery prominence to suggest ipsilateral carotid disease or temporal arteritis? Skin findings such as malar flush, angiofibromata, slate gray pigmentation because of amiodarone, lupus pernio, facial edema, or premature aging should be noted.

The mouth should be inspected for dental hygiene or enamel erosions, gum hyperplasia, widely spaced teeth, macroglossia, tongue angiomata, or sublingual cyanosis. Are there any tonsillar lesions to suggest Tangier disease? Are there any petechiae on the hard palate? Is the nose saddle-shaped? Do the ears show evidence of gout, alkaptonuria, or a diagonal crease sign?


Is there any webbing of the neck? Is the thyroid enlarged? Are there any surgical scars to suggest carotid or thyroid operations? Is there unilateral or bilateral jugular venous distention? Plucked chicken skin appearance of the neck?


Are there any deformities of the thoracic cage such as kyphoscoliosis, straight-back syndrome, pectus excavatum, shield chest, or bamboo spine? Are there any surgical scars (thoracotomy, pacemaker, intravenous access site, or vascular surgery)? Are the ribs or sternum still intact? Are there any venous collaterals on the chest wall to suggest Superior Vena Cava (SVC) syndrome? Is there gynecomastia?

Upper Extremity

The hand should be examined for:

1. Size and shape: acromegaly (spade-like), Marfan syndrome (arachnodactyly), rheumatoid arthritis with an ulnar drift, Ehlers-Danlos syndrome with hyperex-tensible joints, Holt-Oram syndrome with fingerized thumb. Absent digits or deformed digits are also noted. Is there clubbing?

2. Edema: superior vena cava syndrome, thoracic outlet syndrome.

3. Neuromuscular disease: myotonia dystrophica, fine tremor of hyperthyroidism.

4. Color change: nicotine staining, cyanosis of nail beds, Raynaud's phenomenon, Osler's nodes, Janeway lesions, tissue necrosis associated with vasculitis.

5. Nail abnormalities: splinter hemorrhages, Terry nails, red lunula, onycholysis, subungual fibromas.

6. Palmar changes: palmar erythema, simian crease, and yellow palmar creases.

7. Temperature change: warm hands (e.g., hyperthyroidism) or cold hands (e.g., vasculitis, arterial occlusion).

Any xanthomas (elbows, hands). Any surgical scars (brachial artery cut-down, radial artery harvesting site for coronary artery bypass graft)? Any venous tracks from intravenous drug abuse?


Is there ascites or central obesity? Is the liver enlarged, tender, or pulsating? Are there prominent venous collaterals because of inferior vena cava (IVC) obstruction? Any signs of red abdominal striae of Cushing's disease; flank or periumbilical ecchymoses?


Deformities such as kyphoscoliosis or bamboo spine are noted. The skin lesions of neurofibromatosis or eruptive xanthoma are often seen here. Is any radiation dermatitis associated with paravertebral muscle atrophy noted?

Lower Extremities

Skin lesions of erythema marginatum (thighs), erythema nodosum (legs), kera-toderma blenorrhagica, or Janeway lesions (soles of feet) are noted. Are skin-popping sites (legs, thighs) seen?

Is there leg swelling (unilateral or bilateral)? Does the swelling pit, or is it firm? Note evidence of pseudohypertrophy of calf muscles and saber shins. Xanthomas of the nodular or tendinous type should be noted. Check for evidence of vascular insufficiency and gangrene of toes.

Step 2: Correlation of Physical Signs With a Cardiovascular Entity Congenital Heart Disease

It is known that certain syndromes are associated with specific congenital cardiac conditions. Thus diagnosis of some of these syndromes from general physical signs would immediately suggest the appropriate specific associated congenital cardiac defect. Syndromes and associated defects are indicated in the following list.

• Holt-Oram syndrome (atrial septal defect)

• Down syndrome (A-V communis, ventricular septal defect, tetralogy of Fallot)

• Turner syndrome (coarctation of the aorta)

• Central cyanosis, polycythemia, and clubbing, pointing to a right-to-left shunt Vascular Disease

Hypertension, hyperlipidemia, smoking, diabetes, and obesity are detectable as coronary artery disease risk factors. Ischemic heart disease may also be suspected in the presence of an ear crease sign, evidence of mediastinal radiation, progeria, polycythemia, PXE, Tangier disease, acromegaly, and in a cocaine addict. Sleep apnea, polyarteritis nodosa, von Recklinghausen's disease, Cushing's syndrome, acromegaly, and gout are associated with hypertension.

Arcus corneae, xanthoma, and lipemia retinalis suggest hyperlipidemia. Hyper-lipidemia is seen in acromegaly and myxedema. Olivarius's sign, unilateral arcus corneae, and a Hollenhorst plaque occur in internal carotid artery disease.

Marfan and Ehlers-Danlos syndromes are associated with aortic aneurysms/ rupture. Sleep apnea, sarcoidosis, scleroderma, and tricuspid regurgitation are associated with pulmonary hypertension. The Shy-Drager syndrome gives rise to postural hypotension.

Limb ischemia/necrosis may be because of atherosclerosis, cholesterol embolism, Buerger's disease, diabetes, Raynaud's phenomenon, or a collagen disease.

Facial edema, neck vein distention, prominent venous collateral circulation on the chest wall, and venous stars are seen in the superior vena cava syndrome, whereas prominent abdominal venous collateral circulation, leg edema, and possibly ascites point to the inferior vena cava syndrome.

Patients with the Osler-Weber-Rendu syndrome may have pulmonary A-V fistula.

Infective Endocarditis

The physical signs are Roth spots, retinal hemorrhages, subungual hemorrhages, petechiae involving the conjunctiva or palate, Osier's nodes, and Janeway lesions. Valvular heart disease may also be present.

Valvular Heart Disease

Some syndromes and conditions are specifically associated with certain valvular dysfunctions. Thus detection of these on general physical signs would immediately point the appropriate associated valvular lesion that needs to be considered. They are listed as follows.

• Carcinoid syndrome, pulmonary hypertension (tricuspid regurgitation)

• Carcinoid, LEOPARD, and Noonan syndromes (pulmonic stenosis)

• Osteogenesis imperfecta, PXE, and Marfan syndrome, infective endocarditis (mitral regurgitation)

• PXE, Ehlers-Danlos syndrome, and Marfan syndrome (mitral valve prolapse)

• Marfan, Reiter's, ankylosing spondylitis, tertiary syphilis, infective endocarditis, and osteogenesis imperfecta (aortic regurgitation).

• Ochronosis and Paget disease of bone (aortic stenosis)

• LEOPARD syndrome (hypertrophic cardiomyopathy)

• Williams' syndrome (supravalvular aortic stenosis)

Heart Failure

Patients with heart failure may have peripheral cyanosis, edema, neck vein distention, leukonychia, and mild jaundice (hypertension, coronary artery disease, valvular heart disease, myocarditis, cardiomyopathy, or pericardial disease may be the underlying cause). High-output failure is seen in Paget's disease of bone and hyperthyroidism.

Myocardial and Pericardial Disease

Myocardial and or pericardial disease will be the cardiac lesion to be considered when physical signs suggest some of the following disorders: hemochromatosis, muscular dystrophy, Friedreich's ataxia, hyperthyroidism, amyloidosis (cardiomyopathy), rheumatic fever, Reiter's syndrome (myocarditis), scleroderma, dermato-myositis, sarcoidosis (pericarditis), and myxedema (pericardial effusion and possibly tamponade).

Heart Block

Increased risk of development of delays and blocks in the electrical conduction of the heart may be suggested when general physical signs lead to the detection of the following disorders: sarcoidosis, gout, rheumatic fever, Reiter's syndrome, SLE, and ankylosing spondylitis. Cardiac Tumors

The presence of cardiac tumors such as atrial myxoma or rhabdomyoma may have to be considered when systemic examination reveals signs of the following: neurofibromatosis (neurofibromas ofthe heart), tuberous sclerosis (rhabdomyoma), and the LAMB syndrome (atrial myxoma).

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