Buja G F, Nava A, Martini B, Canciani B, Thiene G
Department of Cardiology, University of Padua, Medical School, Italy.
Eur Heart J. 1989 Sep;10 Suppl D:13-5. doi: 10.1093/eurheartj/10.suppl_d.13.
268 preselected subjects were extensively 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. In 42 out of 72 cases the autoptic (11 patients), clinical-echocardiographic (30 patients) and haemodynamic (15 patients) data supported the diagnosis of RVD. In all but one deceased patient, death was sudden, while in all the living family members we observed ventricular arrhythmias, mostly with left bundle branch block morphology. Both manifest and concealed forms were documented with polymorphic presentation and with clinical-pathologic findings similar to the non-familial RVD cases. This study confirms the presence of a familial form of RVD that is probably more frequent than previously thought. Preliminary data seem to indicate an autosomal dominant inheritance with incomplete penetrance and variable expression.
对268名预先选定的受试者进行了广泛研究，确诊为右心室发育不良（RVD）的患者有108名存活者和18名已故者，其中35%的病例为家族性。随后，我们研究了来自9个家庭的72名受试者，这些家庭中有1例猝死病例经尸检诊断为RVD。在72例病例中的42例中，尸检（11例患者）、临床超声心动图（30例患者）和血流动力学（15例患者）数据支持RVD的诊断。除1例已故患者外，所有患者均猝死，而在所有存活的家庭成员中，我们观察到室性心律失常，大多具有左束支传导阻滞形态。记录了显性和隐匿性两种形式，表现为多形性，临床病理表现与非家族性RVD病例相似。本研究证实存在家族性RVD，其可能比以前认为的更为常见。初步数据似乎表明其遗传方式为常染色体显性遗传，具有不完全外显率和可变表达。
