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家族性扩张型心肌病

Familial dilated cardiomyopathy.

作者信息

Schmidt M A, Michels V V, Edwards W D, Miller F A

机构信息

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.

出版信息

Am J Med Genet. 1988 Sep;31(1):135-43. doi: 10.1002/ajmg.1320310116.

Abstract

Idiopathic dilated cardiomyopathy is generally considered a sporadic, nongenetic disorder, and reports of familial cases are often regarded as rare occurrences. Results of the present investigation of 6 families with this disorder suggest that familial forms of dilated cardiomyopathy occur more frequently than previously suspected. The familial nature of the dilated cardiomyopathy was not readily apparent in 3 of these families until thorough family investigations had been performed. The clinical symptoms and age of onset were variable from one family to another and within families. Based on these observations, it is recommended that all persons diagnosed with dilated cardiomyopathy have a thorough review of their family history. If there are any cases of unexplained heart disease, sudden unexpected death or syncopal episodes, further investigations of relatives should be performed. Echocardiography is a convenient noninvasive tool for investigating relatives. Early diagnosis of affected relatives is important for 2 reasons--treatment of significant arrhythmias may prevent sudden unexpected death, and genetic counseling can be provided.

摘要

特发性扩张型心肌病通常被认为是一种散发性的非遗传性疾病,家族性病例的报道往往被视为罕见情况。本次对6个患有该疾病家庭的调查结果表明,家族性扩张型心肌病的发生频率比之前怀疑的要高。在对其中3个家庭进行彻底的家族调查之前,扩张型心肌病的家族性质并不明显。不同家庭之间以及同一家庭内部,临床症状和发病年龄各不相同。基于这些观察结果,建议所有被诊断为扩张型心肌病的患者都要对其家族病史进行全面回顾。如果有任何不明原因的心脏病、意外猝死或晕厥发作的病例,应对亲属进行进一步调查。超声心动图是调查亲属的一种便捷的非侵入性工具。对受影响亲属进行早期诊断很重要,原因有二——治疗严重心律失常可能预防意外猝死,并且可以提供遗传咨询。

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