Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
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DOI：
10.1136/hrt.77.2.130
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发表时间：
1997-02-01
期刊：
影响因子：
5.7
通讯作者：
Komajda, M
中科院分区：
文献类型：
--
作者：
McKenna, WJ;Spirito, P;Komajda, M
肥厚型心肌病的诊断依赖于超声心动图显示不明原因的左心室肥厚。以这种方式定义的肥厚型心肌病的患病率估计为1：500，经验表明，当没有其他左心室肥厚原因时，这些标准相对特异。然而，近年来，在分子遗传学研究的背景下对家系进行的系统评估显示，在一些肥厚型心肌病家系中，高达20%的成年人携带导致基因缺陷的疾病不符合常规的超声心动图标准。然而，这些人中的大多数都有症状、心电图改变和/或轻微的超声心动图异常。建议修订肥厚型心肌病家族成员的诊断标准，包括基于症状的主要标准和次要标准，以及心电图和超声心动图异常。考虑到遗传基因缺陷的几率为1：2，症状加上心电图或超声心动图异常是致病基因表达的可能性很高。
The diagnosis of hypertrophic cardiomyopathy has relied on echocardiographic demonstration of unexplained left ventricular hypertrophy. The prevalence of hypertrophic cardiomyopathy defined in this way has been estimated to be 1:500 and experience indicates that these criteria are relatively specific when other causes of left ventricular hypertrophy are absent. In recent years, however, the systematic evaluation of pedigrees performed in the context of molecular genetic studies revealed that in some families with hypertrophic cardiomyopathy up to 20% of adults who carry a disease causing gene defect do not fulfil conventional echocardiographic criteria. None the less, most of these individuals show symptoms, electrocardiographic alterations, and/or minor echocardiographic abnormalities. Revised diagnostic criteria in members of families with hypertrophic cardiomyopathy are proposed, including major and minor criteria based on symptoms, and electrocardiographic and echocardiographic abnormalities. Given that the chance of inheriting the gene defect is 1:2, the likelihood that symptoms plus electrocardiographic or echocardiographic abnormalities are the expression of a disease causing gene is high.