International Journal of Cardiologv, 21 (1988) zyxwvutsrqponmlkjihgfedcbaZYXWVUTSRQPONMLKJIHGFED 111-123 Elsevier 111 IJC 00742 Juvenile sudden death and effort ventricular tachycardias in a family with right ventricular cardiomyopathy Andrea Nava I, Bruno Canciani I, Luciano Daliento I, Giuseppe Miraglia I, Gianfranco Buja ‘, Giuseppe Fasoli ‘, Bortolo Martini I, Roldano Scognamiglio ’ and Gaetano Thiene 2 Departments of ’ Cardiology and ’ Pathology, Uniuers~ty of Padua Medical School, Padua, Italy (Received 3 November 1987; revision accepted 21 March 1988) Nava A, Canciani B, Daliento L, Miraglia G, Buja G, Fasoli G, Martini B, Scognamigilio R, Thiene G. Juvenile sudden death and effort ventricular tachy- cardias in a family with right ventricular cardiomyopathy. Int J Cardiol 1988;21:111-125. zyxwvutsrqponmlkjihgfedcbaZYXWVUTSRQPONMLKJIHGFEDCBA A family with occurrence of juvenile sudden death and effort polymorphous ventricular tachycardias is reported. Nineteen members aged 9 to 63 years were investigated. Four of them died suddenly in their youth. Postmortem investigation performed in 2 deceased subjects disclosed an apparently normal heart at macroscopy but fibro-fatty substitution of the right ventricular free wall was noted at histologic examination. The 14 living members underwent physical examination, resting electro- cardiography, chest X-radiography, Holter monitoring, exercise stress testing, and M-mode and cross-sectional echocardiography. Four patients underwent hemody- namic and electrophysiologic studies. All 14 subjects had normal physical examina- tion as well as normal electrocardiographic and cardiothoracic indices. Localized right ventricular structural and dynamic abnormalities were noted at cross-sectional echo- cardiographic and angiographic investigation of 9 of the patients. The right ventricu- lar volumes in these subjects were normal or slightly increased. In 7 of them, polymorphous ventricular tachycardias were induced by exercise stress testing. Tbe arrhythmias which were responsive to beta-blockade, do not seem to depend on reentry. Enhanced automaticity appeared to be the more likely mechanism of their production. These data demonstrate that right ventricular cardiomyopathy may occur in an occult form with life-threatening electrical instability. Key words: Sudden death; Ventricular tachycardia; Familial cardiomyopathy Correspondence to: Andrea Nava, M.D., Cattedra di Cardiologia, Via Giustiniani 2, 35100 Padova, Italy. Supported by Regione Veneto, Research Project “Juvenile Sudden Death” and by the National Council for Research, Research Project “ Perinatal Pathology and its Sequelae” , Rome, Italy.