Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
JAMA. 2009 Dec 9;302(22):2471-6. doi: 10.1001/jama.2009.1787.
Inherited forms of cardiomyopathy are frequently responsible for heart failure that is otherwise unexplained. Evaluation of familial cardiomyopathy should include not only the individual patient, but also the pattern of inheritance within the family and assessment for the presence of syndromic features. The last 10 years have seen remarkable advances in genetics. Improvements in technology have lowered costs, such that clinical use of genetic testing is rapidly expanding. Genetic counseling about the potential risks and benefits of such testing is an important part of the care of individuals and families with inherited heart disease. Among inherited types of cardiomyopathy, the likelihood of finding a responsible gene mutation varies. Both hypertrophic and right ventricular forms of cardiomyopathy have a relatively high likelihood of finding a responsible gene mutation when testing is properly applied. Because of prominent genetic heterogeneity in familial dilated cardiomyopathy, recognition of pathogenic mutations is more challenging. With or without genetic testing, screening of family members who are at risk for an inherited form of cardiomyopathy leads to earlier identification, earlier treatment, and improved outcomes.
遗传性心肌病常导致不明原因的心力衰竭。家族性心肌病的评估不仅应包括个体患者，还应包括家族内的遗传模式，并评估是否存在综合征特征。在过去的 10 年中，遗传学取得了显著进展。技术的改进降低了成本，使得基因检测的临床应用迅速扩大。关于此类检测的潜在风险和益处的遗传咨询是遗传性心脏病个体和家庭护理的重要组成部分。在遗传性心肌病中，发现相关基因突变的可能性各不相同。当适当应用检测时，肥厚性和右心室心肌病形式的心肌病发现相关基因突变的可能性相对较高。由于家族性扩张型心肌病存在明显的遗传异质性，因此识别致病性突变更具挑战性。无论是否进行基因检测，对有遗传性心肌病风险的家庭成员进行筛查可更早发现疾病，更早进行治疗，并改善预后。
