Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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DOI：
10.1161/circheartfailure.108.817346
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发表时间：
2009-05
期刊：
影响因子：
--
通讯作者：
Siegfried JD
中科院分区：
文献类型：
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作者：
Hershberger RE;Cowan J;Morales A;Siegfried JD
本文就遗传性心肌病的遗传病因、基因检测和遗传咨询作一综述，主要介绍以扩张型心肌病（DCM）为主，以肥厚型心肌病（HCM）和致瘤性右心室发育不良/心肌病（ARVD/C）为特征的遗传性心肌病。最近在确定每种心肌病的遗传原因方面取得了巨大进展，并对关键的表型和基因型信息进行了综述。临床基因检测正在迅速出现，其主要理由是识别有风险的无症状或无疾病的亲属。对致病突变的了解可以指导对疾病发作的临床监测，从而加强预防和治疗干预措施。遗传咨询也适用于患者及其家庭成员关于他们的心肌病症状，遗传模式，家庭筛查建议，基因检测选择和可能的结果。
This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy (DCM), with salient features of hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), regarding genetic etiology, genetic testing, and genetic counseling. Enormous progress has recently been made in identifying genetic causes for each cardiomyopathy, and key phenotype and genotype information is reviewed. Clinical genetic testing is rapidly emerging with a principal rationale of identifying at-risk asymptomatic or disease-free relatives. Knowledge of a disease-causing mutation can guide clinical surveillance for disease onset, thereby enhancing preventive and treatment interventions. Genetic counseling is also indicated for patients and their family members regarding the symptoms of their cardiomyopathy, its inheritance pattern, family screening recommendations, and genetic testing options and possible results.