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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。

Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.

出版信息

Circ Genom Precis Med. 2021 Oct;14(5):e000086. doi: 10.1161/HCG.0000000000000086. Epub 2021 Aug 20.

Abstract

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.

摘要

影响心血管系统的遗传性疾病较为常见,包括心脏通道病、心肌病、大血管病、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来对这些疾病遗传起源的研究,有助于提供诊断、临床管理和预后信息。尽管有许多指南和声明详细介绍了心血管基因检测的最佳实践,但针对这一脆弱人群检测的儿科重点声明却很少。在这份科学声明中,我们试图围绕在婴儿、儿童和青少年中使用基因检测来治疗心血管疾病的现有文献进行整合。

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