Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Clinical Presentation of Four Siblings with Different Clinical Presentation and Review of the Literature

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) is a cardiomyopathy characterized pathologically by fibrofatty replacement primarily of the RV and clinically by life-threatening ventricular arrhythmias in apparently healthy young people. The disease is typically inherited as an autosomal dominant trait with variable penetrance. We report four siblings with ARVC in one family with different clinical features: Sibling A had developed sudden cardiac death 19 years ago, at age 18. Sibling B, a 14-year-old girl admitted with multiple congestive heart failure attacks over a two-year period, finally developed fatal ventricular fibrillation at age 16. In sibling C, a 16-year-old girl with fatigue, palpitation and prominent ascites recently, typical features of ARVC were noted on ECG and nonsustained ventricular tachycardia on Holter recording. Echocardiography revealed dilated cardiomyopathy with prominent right chamber dilatation and magnetic resonance showed fatty replacement of right and left ventricular myocardium. The patient, diagnosed as having ARVC with left ventricular involvement, is currently on sotalol and congestive heart failure medication. Sibling D, a 9-year-old girl, screened because of her elder sister, was asymptomatic but her ECG, TTE and MRI revealed early phase of ARVC. In summary, the natural history of ARVC can be asymptomatic, subclinical-resulting in sudden death, overt with life-threatening arrhythmias, or dominated by progressive congestive heart failure.