European Heart Journal (1989) 10, (Supplement D), 13-15 Right ventricular dysplasia: A familial cardiomyopathy? G. F. BUJA, A. NAVA, B. MARTINI, B. CANCIANI, G. TIIIENE* Departments of Cardiology * and *Pathology, University of Padua-Medical School, Padua, Italy KEY WORDS: Right ventricular dysplasia. 268 preselected subjects were extellSively studied and the diagnosis of right ventricular dysplasia (RVD) was made in 108 living and 18 deceased patients, 35% of cases being familial. Subsequently we studied 72 subjects from nine families in which a case of sudden death had occurred with the autoptic diagnosis of RVD. III 42 out of 72 cases the autoptic (11 patients), clinical-ec/lOcardiographic (30 patients) and haemodynamic (15 patients) data supported the diagnosis of RVD. In all but one deceased patient, death was sudden, while ill all the living family members we observed ventricular arrhythmias, mostly with left bundle branch block morp/lology. Both manifest and COli cealed forms were documented with polymorphic presentation and with clinical-pathologic findings similar to the non{amilial RVD cases. This study confirms the presence of a familial form of RVD that is probably more frequent tlzan previously thought. Preliminary data seem to indicate an autosomal dominant inheritance with incomplete penetrance and variable expression. Introduction Right ventricular dysplasia (RVD) is a primary disorder of the right ventricular myocardium, characterized by a progressive replacement by adipose or fibrous tissue proceeding from the epicardium toward the endocardium. Ventricu- lar arrhythmias with left bundle branch block morphology are the most common clinical manifestation of this condition{lI. Recently some authors described cases of juvenile sudden death secondary to ventricular fibrillation 12l • The origin of this cardiomyopathy is still unknown and congenital, chemical, viral and bacterial agents have been proposed as possible causes[3,41. Moreover, the reports of familial cases allow us to hypothesize a genetic origin{l-'7 1 . Prevalence of RVD in a preselected population In 1983 we began a study in preselected subjects in order to detect the prevalence of RVD. For this purpose we initially enrolled only patients who had some specific characteristics l'71 . Address for correspondence: Dr Gianfranco Buja, Cattedra e Divisione di Cardiologia dell'Universita di Padova, Via Giustiniani, 2 35100 Padova, Italy. 0195-668X/89/0DOO13 + 03 $03.00/0 268 patients were examined and we were able to find clinical, electrocardiographic, echocardio- graphic and haemodynamic signs of RVD in 108 living and 18 deceased patients. Among the 108 patients, 35% belonged to familial groups. Study of familial fonns of RVD A detailed analysis of the familial cases was then performed, in order to determine the true familial occurrence of this disease and to study the possible genetic transmission. To this end, we initially considered members of families in which cases of juvenile sudden death had occurred with autoptic diagnosis of RVDI41. This selection was done for the following reasons: certain autoptic diagnosis, possible high pene- trance of the disease, high compliance of the members. 72 subjects from nine families were studied with 16 who had died at young age and 56 still living. Autoptic (11 patients), clinical and echocardiographic (30 patients) or haemo- dynamic (15 patients) data supported the diagnosis of RVD in 42 out of 72 patients. The data for 12 deceased members are reported in Table 1. It must be stressed that 50% of these patients were completely asymptomatic and none had RVD diagnosis during life. The data © 1989 The European Society of Cardiology Supplied by The British Library - "The world's knowledge" WARNING This document has been supplied under a CLA Licence. It is protected by copyright and it may not (even for internal purposes) be further copied, stored or on-copied electronically without permission, save as may be permitted by law. The recipient may print out a single copy of any document received electronically.