title: [Arrhythmogenic right ventricular dysplasia. Report of a familial case].
abstract: Arrhythmogenic right ventricular dysplasia is a pathologic condition of unknown origin that primarily affects the right ventricle free wall characterized by progressive atrophy with fibrous-fatty substitution of the myocardium. The patient affected may present in childhood or as an adult with cardiomegaly or/and ventricular arrhythmias with a left bundle branch block configuration. The reports of familial occurrence suggest the etiologic role of a genetic defect with autosomal dominance and variable expression and penetrance, an alternative, myocarditis (toxic or infectious) is a possible cause. The aim of the present study is an non-invasive instrumental evaluation of the family of a young patient affected by arrhythmogenic right ventricle dysplasia. The authors evaluated 10 patients, 7 women and 3 men, all asymptomatic, with electrocardiography, exercise stress test on a bicycle ergometer, 24-hour Holter monitoring and two-dimensional echocardiography. A patient had certain ARVD diagnosis, while in the other 9 patients all the instrumental investigations were normal. This observation seem to confirm that ARVD may be familial and justify a systematic in-depth familial study in all demonstrated cases of ARVD and the follow-up of all patients identified who had arrhythmias or isolated right ventricular morphologic anomalies.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D002648:Child; D017548:Echocardiography, Transesophageal; D004562:Electrocardiography; D015716:Electrocardiography, Ambulatory; D005080:Exercise Test; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018497:Ventricular Dysfunction, Right / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics
vernacular_title: Displasia aritmogena del ventricolo destro. Descrizione di un caso di familiarità.