Scleroderma and the Heart

KEY FEATURES

ESSENTIALS OF DIAGNOSIS

• Sclerotic skin, esophageal dysfunction, Raynaud’s phenomenon

• Diastolic heart failure

• Functional and structural small-vessel coronary artery disease (CAD)

• Multisegmental myocardial perfusion abnormalities in the absence of epicardial CAD

• Pulmonary hypertension and cor pulmonale

GENERAL CONSIDERATIONS

• Scleroderma or progressive systemic sclerosis is characterized by excessive accumulation of connective tissue and fibrosis of the skin, skeletal muscles, joints, blood vessels, kidneys, lung, gastrointestinal tract, and heart

• Scleroderma occurs in 10–20 per million people per year, is more common in women (3:1), and usually occurs in people between ages 30 and 50 years

• Ninety percent of patients with scleroderma have Raynaud’s phenomenon, esophageal dysfunction, and sclerotic skin changes in a focal (80%) or a diffuse pattern (20%)

  • – The more common focal type is associated with the CREST syndrome (calcinosis, Raynaud’s, esophageal dysfunction, sclerodactyly, and telangiectasia)

  • – Skin changes are often limited to the face and fingers

  • – The diffuse type more frequently involves the abdominal and thoracic organs

• The diffuse type has a worse prognosis than the focal type

• The major causes of mortality are pulmonary hypertension, renal dysfunction, and heart disease

• The cardiac diseases most commonly associated with scleroderma include coronary artery disease, myocarditis, and pulmonary hypertension

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

• Chest pain is common but is more often due to pericarditis or esophageal reflux than to myocardial ischemia

• Dyspnea, orthopnea, and edema

PHYSICAL EXAM FINDINGS

• Typical skin findings of scleroderma, telangiectasia, subcutaneous calcified nodules

• Signs of heart failure, such as cardiomegaly, S₃, jugular venous distention, pulmonary rales, and edema

• Pericardial friction rub, pulsus paradoxus, fever

• Right ventricular lift, loud pulmonic component of S₂ with pulmonary hypertension

DIFFERENTIAL DIAGNOSIS

• Typical coronary artery disease

• Other causes of myopericarditis and heart failure

• Other causes of pulmonary hypertension and cor pulmonale

DIAGNOSTIC EVALUATION

LABORATORY TESTS

• Elevated cardiac biomarkers in myocarditis or infarction

• Exudative pericardial effusion

ELECTROCARDIOGRAPHY

• Septal Q waves usually due to fibrosis rather than infarction

• Signs of acute pericarditis

• Conduction abnormalities

• Nonspecific ST-T–wave changes

• Right ventricular hypertrophy

IMAGING STUDIES

• Chest x-ray: enlarged cardiac silhouette

• Echocardiography may show the following common findings:

  • – Diffuse left ventricular dysfunction or segmental wall motion abnormalities

  • – Left ventricular hypertrophy

  • – Left atrial enlargement

  • – Doppler evidence of diastolic dysfunction

  • – Nonspecific valve thickening and regurgitation

  • – Also seen are pericardial effusion, signs of tamponade, and right ventricular and atrial hypertrophy

• Rest or exercise radionuclide myocardial perfusion imaging may show multisegmental perfusion defects

• CT and cardiac MRI are useful for evaluating pericardial thickness

DIAGNOSTIC PROCEDURES