Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Neurology. 2012 Aug 7;79(6):561-5. doi: 10.1212/WNL.0b013e3182635789.
Vasovagal syncope (VVS) is the most frequent type of syncope and a common differential diagnosis of epilepsy. The role of genetic factors in VVS is debated. We performed a twin-family study to clarify this question and to analyze the putative mode of inheritance.
Fifty-one same-sex twin pairs where at least 1 had syncope were ascertained. The twins were interviewed via telephone using a standardized questionnaire. Available medical records were obtained. Information on the affected status of first- and second-degree relatives was acquired.
There was a trend toward higher casewise concordance in monozygous (MZ, 0.75) than dizygous (DZ, 0.50) twins for any syncope (p = 0.06). Significant and strong effects on concordance between MZ and DZ twins were found for fainting at least twice unrelated to external circumstances (0.71 vs 0.27, p = 0.018) and for syncope associated with typical vasovagal triggers (0.62 vs 0.00, p < 0.001). Twelve of 19 concordant MZ twin pairs reported sparse or no other affected family members whereas in the other 7 pairs multiple close relatives were affected.
The twin analysis provides strong evidence for the relevance of genetic factors in VVS. Analysis of the families suggests that complex inheritance (multiple genes ± environmental factors) is usual, with rarer families possibly segregating a major autosomal dominant gene.
血管迷走性晕厥(VVS)是最常见的晕厥类型,也是癫痫的常见鉴别诊断。遗传因素在 VVS 中的作用存在争议。我们进行了一项双胞胎-家庭研究,以阐明这个问题,并分析可能的遗传模式。
确定了 51 对至少有 1 名晕厥的同性别双胞胎。通过电话使用标准化问卷对双胞胎进行访谈。获取了可用的医疗记录。获取了一级和二级亲属的患病情况信息。
对于任何晕厥,同卵(MZ,0.75)双胞胎比异卵(DZ,0.50)双胞胎的病例一致性呈上升趋势(p = 0.06)。对于与外部环境无关的晕厥至少两次(0.71 与 0.27,p = 0.018)和与典型血管迷走性触发相关的晕厥(0.62 与 0.00,p < 0.001),MZ 和 DZ 双胞胎之间的一致性存在显著且强烈的影响。19 对一致的 MZ 双胞胎中有 12 对报告稀疏或没有其他受影响的家庭成员,而在其他 7 对中,多个近亲受影响。
双胞胎分析为 VVS 中遗传因素的相关性提供了强有力的证据。对家庭的分析表明,复杂的遗传(多个基因±环境因素)很常见,罕见的家庭可能会分离出一个主要的常染色体显性基因。