Congenital heart disease (CHD) remains the most common birth defect, with an estimated incidence of approximately 1% of all births. The population of adults with CHD is growing rapidly with advances in medical care. Overall survival to adulthood in the current era estimated to exceed 90%. Genetic causes of CHD can be classified into several broad categories: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. However, only 20-30% of CHD cases have an established etiology characterized by either genetic abnormalities or environmental factors. The role of genetics in the field of adult CHD is only increasing. More adult patients with CHD are seeking genetic counseling to understand the etiology of their underlying CHD and the risks to future offspring. A multidisciplinary approach is essential to provide appropriate counseling to patients regarding indications for genetic testing and interpretations of results. Novel advances with precision medicine may soon enable clinicians to individualize therapies for a comprehensive approach to the care of adult patients with CHD.

中文翻译：

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成年先天性心脏病的遗传因素。

先天性心脏病（CHD）仍然是最常见的出生缺陷，估计发生率约为所有出生的1％。随着医疗保健的进步，患有冠心病的成人人口正在迅速增长。在当前时代，成年后的总体生存率估计超过90％。冠心病的遗传原因可分为几大类：（a）染色体非整倍性，（b）染色体大的缺失或重复，（c）单基因突变，和（d）拷贝数变异。但是，只有20-30％的冠心病病例具有既定的病因，其特征是遗传异常或环境因素。遗传学在成人冠心病领域中的作用仅在增加。越来越多的成年冠心病患者正在寻求遗传咨询，以了解其潜在冠心病的病因和未来后代的风险。多学科方法对于向患者提供有关基因检测指征和结果解释的适当咨询至关重要。精准医学的新进展可能很快使临床医生能够针对个体化治疗方法，以全面的方法来治疗成人冠心病。