Conte M R, Marchese C, Anselmino M, Cervasel C, Gaita F, Rosettani E, Brusca A
Università degli Studi di Torino, Istituto di Cardiologia e Cardiochirurgia.
G Ital Cardiol. 1987 Nov;17(11):995-8.
Cases of familial arrhythmogenic right ventricular dysplasia (ARVD) have been reported by many authors, and a genetic mechanism of transmission has been hypothesized. Both autosomal dominant and autosomal recessive mechanism of inheritance were suggest. We present a father and a daughter affected by arrhythmogenic right ventricular dysplasia, belonging to a family with many cases of sudden death. Both of them presented with an episode of ventricular tachycardia with left bundle branch block. The clinical diagnosis was made according to electrocardiographic, echocardiographic, angionuclear and hemodynamic criteria of ARVD. The familia analysis suggest an autosomal dominant mechanism of transmission.
许多作者都报道过家族性致心律失常性右室发育不良（ARVD）病例，并推测了其遗传传递机制。有人提出了常染色体显性和常染色体隐性两种遗传机制。我们报告了一对父女患有致心律失常性右室发育不良，他们所属的家族中有多例猝死病例。他们两人都出现了伴有左束支传导阻滞的室性心动过速发作。临床诊断是根据ARVD的心电图、超声心动图、血管造影和血流动力学标准做出的。家族分析提示为常染色体显性遗传机制。
