THE FREQUENCY OF FAMILIAL DILATED CARDIOMYOPATHY IN A SERIES OF PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY
THE FREQUENCY OF FAMILIAL DILATED CARDIOMYOPATHY IN A SERIES OF PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY
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DOI：
10.1056/nejm199201093260201
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发表时间：
1992-01-09
影响因子：
158.5
通讯作者：
TAZELAAR, HD
中科院分区：
文献类型：
--
作者：
MICHELS, VV;MOLL, PP;TAZELAAR, HD
背景。扩张型心肌病的特点是心室大小增大和心室功能损害。大多数病例被认为是散发的，家族性扩张型心肌病通常被认为是一种罕见而独特的疾病。我们研究了特发性扩张型心肌病家族性病例的比例，这些患者的一级亲属进行了调查，而不管这些亲属是否有心脏症状。我们对59例特发性扩张型心肌病患者的亲属进行了研究，方法是获得家族史，并进行体格检查、心电图、二维、m型和多普勒超声心动图。共对315名亲属进行了检查。来自12个家庭的18名亲属被证明患有扩张性心肌病。因此，59例指标患者中有12例（20.3%）患有家族性疾病。家族性疾病患者和非家族性疾病患者在年龄、性别、疾病严重程度、暴露于选定环境因素、心电图或超声心动图特征等方面均无差异。一个值得注意的发现是240名射血分数正常的健康亲属中有22名（9.2%）在收缩期或舒张期（或两者都有）左心室直径增加，而112名健康对照者中有2名（1.8%）单独研究。扩张性心肌病在本研究中至少五分之一的患者中被发现是家族性的，这一比例比以前的报道要高得多。这一发现对家族筛查具有重要意义，并为进一步研究扩张型心肌病的病因和自然史提供了指导。
Background. Dilated cardiomyopathy is characterized by an increase in ventricular size and impairment of ventricular function. Most cases are believed to be sporadic, and familial dilated cardiomyopathy is usually considered to be a rare and distinct disorder. We studied the proportion of cases of idiopathic dilated cardiomyopathy that were familial in a large sequential series of patients whose first-degree relatives were investigated regardless of whether these relatives had cardiac symptoms.Methods. We studied the relatives of 59 index patients with idiopathic dilated cardiomyopathy by obtaining a family history and performing a physical examination, electrocardiography, and two-dimensional, M-mode, and Doppler echocardiography. A total of 315 relatives were examined.Results. Eighteen relatives from 12 families were shown to have dilated cardiomyopathy. Thus, 12 of the 59 index patients (20.3 percent) had familial disease. There was no difference in age, sex, severity of disease, exposure to selected environmental factors, or electrocardiographic or echocardiographic features between the index patients with familial disease and those with nonfamilial disease. A noteworthy finding was that 22 of 240 healthy relatives (9.2 percent) with normal ejection fractions had increased left ventricular diameters during systole or diastole (or both), as compared with 2 of 112 healthy control subjects (1.8 percent) who were studied separately.Conclusions. Dilated cardiomyopathy was found to be familial in at least one in five of the patients in this study, a considerably higher percentage than in previous reports. This finding has important implications for family screening and provides direction for further investigation into the causes and natural history of dilated cardiomyopathy.