X-LINKED DILATED CARDIOMYOPATHY
X-LINKED DILATED CARDIOMYOPATHY
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DOI：
10.1056/nejm198705073161904
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发表时间：
1987-05-07
影响因子：
158.5
通讯作者：
SWIFT, M
中科院分区：
文献类型：
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作者：
BERKO, BA;SWIFT, M
为了研究特发性扩张型心肌病的遗传，我们调查了一个大的亲属，其中11名年轻男性成员有明确或可能的疾病证据。我们有完整临床资料的5名受影响的男性在症状出现后存活了5至12个月，这些症状发生在生命早期（15至21岁）。另外6名男性的临床资料不完整，但提示可能有心肌病。三名患病男性的母亲被诊断为明确的，两名可能的迟发性扩张性心肌病。这些女性在40多岁时表现为非典型胸痛，并在10年或更长时间内逐渐发展为进行性充血性心力衰竭。扩张性心肌病的x连锁遗传提示该家族男性发病早，女性发病晚，且无男性间传播的证据。与半合子男性的早发性相比，女性的晚发性与突变等位基因的杂合性是相容的。由于大多数遗传致死性x连锁综合征的病例似乎是散发的，而每个“特发性”扩张型心肌病的病例中，x连锁遗传可以从家族信息中得到证实，因此有可能由于同一位点的突变而存在几个非家族性病例。
To study the inheritance of idiopathic dilated cardiomyopathy, we investigated a large kindred in which 11 young male members had definite or possible evidence of the disorder. The five affected males for whom we had complete clinical data survived for 5 to 12 months after the onset of symptoms, which occurred early in life (ages 15 to 21 years). In six other males, clinical data were incomplete but suggested possible cardiomyopathy. Three mothers of affected males were given a diagnosis of definite, and two of possible, late-onset dilated cardiomyopathy. These women presented in their 40s with atypical chest pain, and progressive congestive heart failure developed gradually over a period of 10 or more years. X-linked inheritance of dilated cardiomyopathy is suggested in this family by the early onset in males, late onset in females, and no evidence of male-to-male transmission. The late onset of the disease in females, in contrast to the early onset in hemizygous males, is compatible with heterozygosity for the mutant allele. Since most cases of genetically lethal X-linked syndromes appear to be sporadic for every case of "idiopathic" dilated cardiomyopathy in which X-linked inheritance can be confirmed from family information, it is possible that there are several nonfamilial cases due to a mutation at the same locus.