先证者
基因检测
心肌病
遗传咨询
医学
病因学
多学科方法
生物信息学
重症监护医学
遗传学
内科学
生物
基因
心力衰竭
突变
社会科学
社会学
标识
DOI:10.1016/j.jchf.2022.11.025
摘要
Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. The yield of genetic testing is optimized when performed on a proband with a clear phenotype, and interrogates genes that are validated in association with that specific form of cardiomyopathy. Variants of uncertain significance are frequently uncovered and should not be overinterpreted. Identifying an impactful genetic variant as the cause of a patient’s cardiomyopathy can have important prognostic impact, and enable streamlined cascade testing to highlight at risk relatives. Certain genotypes are associated with unique potential cardiac and noncardiac risk factors and may dictate personalized approaches to treatment.
科研通智能强力驱动
Strongly Powered by AbleSci AI