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ESSENTIALS OF DIAGNOSIS

  • Symptoms and signs of heart failure.

  • Echocardiogram confirms LV dilation, thinning, and global dysfunction.

  • Severity of RV dysfunction critical in long-term prognosis.

GENERAL CONSIDERATIONS

Heart failure definitions have changed over the years and patients with a dilated cardiomyopathy are generally placed into the category of heart failure with reduced ejection fraction where the LVEF is defined as less than or equal to 40%. In about half of the patients in this category there is LV enlargement and it is this group that defines dilated cardiomyopathy. This is a large group of heterogeneous myocardial disorders characterized by reduced myocardial contractility in the absence of abnormal loading conditions such as with hypertension or valvular disease. The prevalence averages 36 cases/100,000 in the United States and accounts for approximately 10,000 deaths annually. Blacks are afflicted three times as often as whites. The prognosis is poor with 50% mortality at 5 years once symptoms emerge.

The causes are multiple and diverse. Up to 20–35% have a familial etiology. A large proportion is idiopathic. Endocrine, inflammatory, and metabolic causes include obesity, diabetes, thyroid disease, celiac disease, systemic lupus erythematosus, acromegaly, and growth hormone deficiency. Toxic, drug-induced, and inflammatory causes are listed in the prior section. Nutritional diseases such as deficiency of thiamine, selenium, and carnitine have also been documented. Dilated cardiomyopathy may also be caused by prolonged tachycardia either from supraventricular arrhythmias, from very frequent PVCs (more than 15% of heart beats), or from frequent right ventricular pacing. Dilated cardiomyopathy is also associated with HIV, Chagas disease, rheumatologic disorders, iron overload, sleep apnea, amyloidosis, sarcoidosis, chronic alcohol usage, end-stage kidney disease, or cobalt exposure (“Quebec beer-drinkers cardiomyopathy”). Peripartum cardiomyopathy and stress-induced disease (tako-tsubo) are discussed separately.

CLINICAL FINDINGS

A. Symptoms and Signs

In most patients, symptoms of heart failure develop gradually. It is important to seek out a history of familial dilated cardiomyopathy and to identify behaviors that might predispose patients to the disease. The physical examination reveals rales, an elevated JVP, cardiomegaly, S3 gallop rhythm (see AUDIO 10–6), often the murmurs of functional mitral or tricuspid regurgitation (see AUDIO 10–9 and AUDIO 10–10), peripheral edema, or ascites. In severe heart failure, Cheyne-Stokes breathing, pulsus alternans, pallor, and cyanosis may be present.

B. ECG and Chest Radiography

The major findings are listed in Table 10–17. Sinus tachycardia is common. Other common abnormalities include left bundle branch block and ventricular or atrial arrhythmias. The chest radiograph reveals cardiomegaly, evidence for left and/or right heart failure, and pleural effusions (right more frequently than left).

Table 10–17.Classification of the cardiomyopathies.

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