致心律失常性右心室发育不良二家系4例及文献复习

Arrhythmogenic right ventricular displasia:reported 4 cases in 2 families and analyzed 58 cases in 15 families

目的 :探讨致心律失常性右心室发育不良 ( ARVD)的临床分型及遗传类型。方法 :结合文献对二家系 4例 ARVD患者进行分析。结果 :ARVD的遗传特点为 :1男女均可患病 ,但男性明显多于女性 (男 :女 =3.8:1) ,有明显的性别影响。2患者的同胞及家属中发病率很高。3一般在成年后发病。4有直接父传子现象 ,并可每代出现 ,连续数代 ,呈垂直分布格局。5疾病的表现度有较大的可变性 ,有时表现度可降至不外现 ,但其致病基因并不消失 ,隔代后又可表现。结论 :该病为常染色体显性遗传 ,可分为心律失常 (包括猝死 )、右心衰竭、伴有左心病变及无临床症状四型。

Objective:To explore the clinical classification and genitic characters of arrhythmogenic right ventricular displasia (ARVD).Method:4 cases of ARVD in two families were reported and 58 cases of 15 families were analyzed.Result:The results showed that ARVD had some genetic charasters:① Both Male and female could suffer this disease,but male was more than famele,the ratio was 3.8 ∶1.②The morbidity was very high in suffered family.③The age of suffered was comparative elder.④There was the phenomenon from father to son,and could appear in every generation.⑤Penetrance was different in suffered family,sometimes the expression of that gene was very lower,even no expression,but did not disappear,one or two generation later it could expression again.Conclusion:According to these characters mentioned above,we conclude that ARVD is a autosome dominant heredity disease(AD),And according to clinical expression of this disease,we classify these clinical expression to four type:①Arrhythmogenic type (including sudden death).②Right ventricular failure.③Accompany with left ventricular displasia.④No complaint.