Judge Daniel P, Rouf Rosanne
Center for Inherited Heart Disease, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Ross 1049, Baltimore, MD, 21205, USA,
Curr Treat Options Cardiovasc Med. 2010 Dec;12(6):566-77. doi: 10.1007/s11936-010-0092-7.
Inherited forms of cardiomyopathy are common causes of heart failure. Applications of genetics in the evaluation and management of heart failure include the determination of inheritance patterns within families with cardiomyopathy, the evaluation of affected patients for syndromic features, the determination of people within families who are at risk of heart failure, and the identification of responsible gene mutations. Family planning may also be assisted by determination of a clear mutation that predisposes to heart failure. Genetic counseling is critical, and it should accompany the use of genetic testing in cardiovascular diseases. With the rapid pace of growth in technology that is used to determine DNA sequence, costs have declined and clinical application of genetic testing has expanded. This is particularly relevant for heart failure, because each of the familial forms of cardiomyopathy may be caused by a mutation in many different genes. Most families share a unique gene mutation, and appropriate interpretation of novel DNA variants is essential for proper use. The evaluation of risk of arrhythmia in familial forms of heart failure may benefit from genetic testing, as mutations in the genes encoding lamin A/C, desmin, and cardiac troponin T are associated with increased risk of sudden cardiac death. Because of its complexity and the rapid rate of change in available genetic testing options, the genetic evaluation of heart failure is best suited to tertiary referral centers with specific expertise in this area.
遗传性心肌病是心力衰竭的常见病因。遗传学在心力衰竭评估和管理中的应用包括确定心肌病家族中的遗传模式、评估受影响患者的综合征特征、确定家族中存在心力衰竭风险的人群以及识别相关基因突变。确定导致心力衰竭的明确突变也有助于计划生育。遗传咨询至关重要，在心血管疾病的基因检测中应同时进行。随着用于确定DNA序列的技术快速发展，成本下降，基因检测的临床应用得以扩大。这对心力衰竭尤为重要，因为每种家族性心肌病形式可能由许多不同基因的突变引起。大多数家族都有独特的基因突变，正确解读新的DNA变异对于正确应用至关重要。对家族性心力衰竭患者心律失常风险的评估可能受益于基因检测，因为编码核纤层蛋白A/C、结蛋白和心肌肌钙蛋白T的基因突变与心源性猝死风险增加有关。由于其复杂性以及可用基因检测选项的快速变化，心力衰竭的基因评估最适合由在该领域具有特定专业知识的三级转诊中心进行。
