Congenital heart disease (CHD) is the most prevalent birth defect and is the result of multiple etiologies including genetic and environmental causes. This article reviews the genetic workup for structural CHD in the clinical setting, beginning with CHD epidemiology and etiology and then moving to genetic testing, clinical evaluation, and genetic counseling. An algorithm is presented as a guide to genetic test selection, and available tests are explained with their respective advantages and limitations. Finally, future advances are discussed. As this review focuses on structural heart disease, isolated cardiomyopathies, inherited primary arrhythmia syndromes and aortopathies are not discussed.

中文翻译：

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结构性先天性心脏病的遗传检查。

先天性心脏病（CHD）是最普遍的出生缺陷，是多种病因（包括遗传和环境原因）的结果。本文回顾了临床上结构性冠心病的遗传检查，从冠心病的流行病学和病因学开始，然后转向基因检测，临床评估和遗传咨询。提出了一种算法，作为遗传测试选择的指南，并解释了可用的测试及其各自的优点和局限性。最后，讨论了未来的发展。由于本综述侧重于结构性心脏病，因此不讨论孤立的心肌病，遗传性原发性心律不齐综合征和主动脉病。