Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic cardiomyopathy, or dysplasia, is the rarest of the cardiomyopathies. Familial disease is common in an autosomal dominant inheritance pattern with incomplete penetrance. This cardiomyopathy is characterized by progressive replacement of the RV myocardium with fibrofatty tissue in an eventual global distribution. The left ventricle and septum are usually spared. 13

CLINICAL FEATURES AND DIAGNOSIS The typical presentation is that of sudden death or ventricular dysrhythmia in a young or middle-aged patient. The findings upon physical examination are normal. The chest x-ray shows no specific findings, and the heart size is not enlarged. The ECG may show a right bundle branch pattern and precordial T-wave inversion. Echocardiographic studies, radionuclide angiography, and cardiac catheterization are routinely required to confirm the diagnosis. The echocardiogram has the highest sensitivity and positive predictive value for the diagnosis of RV abnormalities and typically shows RV contraction abnormalities and RV enlargement.13 Magnetic resonance imaging has been shown to detect fatty infiltration of the myocardium and may become the preferred diagnostic test.

TREATMENT AND DISPOSITION The majority of patients present after aborted sudden cardiac death, with syncope, or with complex ventricular ectopy. Due to the nature of these complaints, hospitalization is indicated. Ventricular tachycardia can be suppressed with antiarrhythmic drugs, but ablative procedures or implantation of an antiarrhythmic device may be necessary.

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