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  • Title: [Arrhythmogenic right ventricular dysplasia. Report of a familial case].
    Author: Paoloni P, Cardinali L, Mennecozzi M, Capone P.
    Journal: Minerva Cardioangiol; 1995 May; 43(5):231-5. PubMed ID: 7478047.
    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.
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