Clinical and Instrumental Evaluation of the Family of a Patient with Arrhythmogenic Right Ventricle Dysplasia

Abstract

The aim of the present study is a clinical and instrumental evaluation of the family of a patient with arrhythmogenic right ventricle dysplasia (ARVD), ini tially complicated by recurrent ventricular tachycardia and later by congestive cardiac failure. Because the probability of familial involvement is very high in those cases described in the literature, the authors evaluated the patient's 3 chil dren : 2 daughters. twenty-four and twenty years old, respectively, and a twenty- one-year-old son; his niece, thirty-one years old; and her sons three and eight years old. The authors did not evaluate his fifty-six-year-old sister, because she was affected by rheumatic mitral valve disease. All in the study were asympto matic, and clinical examination did not show any pathologic findings. Rest ECG was normal in all cases, and the exercise stress test (Bruce protocol) showed nor mal functional capacity. Holter recordings were normal without arrhythmias; chest x rays showed normal cardiothoracic ratio and cardiac morphologic volume. Two-dimensional echocardiography and pulsed and continuous wave Doppler demonstrated normal sizes of cardiac chambers and normal function and mor phology of cardiac valves. Nevertheless, in 4 cases (66.5%) the right ventricles showed an apical bulging with normal systolic thickness, without hypokinetic or akinetic areas or diverticular outpouchings. The authors did not find those abnormalities in 5 control subjects who were studied in the same way.

Conclusions: In 4 family members (66.5%) of a patient with ARVD pro gressed to cardiac congestive failure, the authors found anomalies of right ven tricle morphology: apical bulging, not revealed in a control group, and an ab sence of symptoms. They believe that these minor anomalies of the right ventricle need further investigation in suspicion of the initial signs of right ventricular dysplasia.