Genetic diseases that affect the cardiovascular system are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and structural diseases of the heart and great vessels. The rapidly expanding availability of clinical genetic testing leverages decades of research into the genetic origins of these diseases, helping inform diagnosis, clinical management, and prognosis. Although a number of guidelines and statements detail best practices for cardiovascular genetic testing, there is a paucity of pediatric-focused statements addressing the unique challenges in testing in this vulnerable population. In this scientific statement, we seek to coalesce the existing literature around the use of genetic testing for cardiovascular disease in infants, children, and adolescents.

中文翻译：

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儿科患者遗传性心血管疾病的基因检测：美国心脏协会的科学声明


影响心血管系统的遗传性疾病相对常见，包括心脏通道病、心肌病、主动脉病、高胆固醇血症以及心脏和大血管的结构性疾病。临床基因检测的迅速普及利用了数十年对这些疾病遗传起源的研究，有助于为诊断、临床管理和预后提供信息。尽管许多指南和声明详细介绍了心血管基因检测的最佳实践，但很少有针对儿科的声​​明来解决这一弱势群体检测中的独特挑战。在这份科学声明中，我们寻求整合有关婴儿、儿童和青少年心血管疾病基因检测应用的现有文献。