Center for Cardiovascular Genetics, Institute of Molecular Medicine, University of Texas Health Sciences Center at Houston, Texas Heart Institute at St Luke’s Episcopal Hospital, Houston, Texas 77030, USA.
Curr Opin Cardiol. 2013 May;28(3):272-81. doi: 10.1097/HCO.0b013e32835fb7f3.
Sudden cardiac death (SCD) affects a significant percentage of young individuals. SCDs are due to genetic heart disorders, such as cardiomyopathies and channelopathies. In the present review, we will describe the recent advancements in understanding the genetic and molecular basis of hereditary cardiac diseases.
Considerable progress has been made in identification of new genes associated with monogenic familial arrhythmogenic syndromes, giving the opportunity to delineate their molecular pathogenesis and identify potential targets for therapeutic intervention. Research discoveries and rapidly dropping costs of DNA sequencing technologies have resulted in availability of genetic testing panels.
Advances in genetic sequencing technology are expected to significantly impact the clinical practice in the near future. Genetic testing represents a powerful tool for cause determination of arrhythmogenic cardiac diseases, efficient screening of family members, possible risk stratification and treatment choices. However, specific expertise is required for rational ordering and correct interpretation of the genetic screening results.
心脏性猝死（SCD）影响了相当大比例的年轻人。SCD 是由遗传性心脏疾病引起的，如心肌病和通道病。在本综述中，我们将描述在理解遗传性心脏疾病的遗传和分子基础方面的最新进展。
在确定与单基因家族性心律失常综合征相关的新基因方面取得了相当大的进展，为阐明其分子发病机制和确定潜在的治疗靶点提供了机会。研究发现和 DNA 测序技术成本的快速下降导致了基因检测面板的可用性。
遗传测序技术的进步有望在不久的将来对临床实践产生重大影响。基因检测是确定心律失常性心脏疾病病因、有效筛查家庭成员、可能的风险分层和治疗选择的有力工具。然而，对于合理的基因筛查结果的订购和正确解释，需要特定的专业知识。
