Pathogenic variation in genes encoding proteins of the cardiac sarcomere is responsible for 30%–40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic testing is to provide diagnostic confirmation and facilitation of family screening. It also assists in the detection of aetiologies, which require distinct monitoring and treatment approaches. Other clinical applications, including the use of genetic information to inform risk prediction models, have been limited by the challenge of establishing robust genotype–phenotype correlations with actionable consequences, but new data on the interaction between rare and common genetic variation, as well as the emergence of therapies targeting disease-specific pathogenic mechanisms, herald a new era for genetic testing in routine practice.

中文翻译：

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肥厚型心肌病的遗传学：对临床实践的既定和新兴影响


编码心脏肌节蛋白的基因的致病性变异是导致 30%–40% 肥厚型心肌病病例的原因。基因检测的主要临床用途是提供诊断确认和促进家庭筛查。它还有助于检测病因，这需要不同的监测和治疗方法。其他临床应用，包括使用遗传信息来为风险预测模型提供信息，受到建立具有可操作后果的强大基因型-表型相关性的挑战的限制，但关于罕见和常见遗传变异之间相互作用的新数据，以及针对疾病特异性致病机制的疗法的出现，预示着常规实践中基因检测的新时代。