《单基因遗传性心血管疾病基因诊断指南》亮点解读

Interpretation of the highlights of the guideline for genetic diagnosis of monogenic cardiovascular disease

单基因遗传性心血管疾病种类多且患者总数庞大,呈家庭聚集性,发病年轻、病情重且疑难复杂病常见。基因检测有助于此类疾病的临床诊断和危险分层,对治疗策略的制定、遗传筛查和遗传阻断等也有指导作用。《单基因遗传性心血管疾病基因诊断指南》对基因诊断在该类疾病中的作用及适用范围进行了系统阐述。该文旨在对指南亮点做一简要解读,以提升临床医生对此的认识与关注。

There are hundreds of types of monogenic cardiovascular disease and the total number of patients is enormous.Such patients had characteristics of family aggregation, earlier onset age, severe and complicated clinical manifestations.Previous studies have shown that genetic testing plays a guiding role not only in disease diagnosis and risk stratification, but also in making the treatment strategy, genetic screening and genetic interruption. The Guideline for Genetic Diagnosis of Monogenic Cardiovascular Disease systematically reviewed the role and applicable range of genetic diagnosis in such diseases. This article aims to provide a brief interpretation of the highlights of the guideline to promote clinicians’,awareness of and attention for monogenic cardiovascular disease.