左心室肥厚基因检测诊断率如何变化？2024最新研究数据解读

The diagnostic yield of genetic testing for left ventricular hypertrophy (LVH) varies depending on the year of publication, the number of genes tested, proband age, and patient selection bias. The first publications reported a diagnostic yield of up to 60%–85% in 2011–2014 when testing adolescents and adults with hypertrophic cardiomyopathy (HCM) (Ackerman et al., 2011). Notably, the diagnostic yield tends to decrease as sequencing technology develops and the number of genes for testing expands. Recent studies have shown 30%–40% genotype-positive results in nonselected patients with cardiomyopathy (CH) (Topriceanu et al., 2024). This can be partly explained by the reclassification of genetic variants using strict pathogenicity criteria and the broad selection of patients referred for genetic testing. Copy-number variant analysis has a limited additional value of 1%–2% for next-generation sequencing (NGS)-based testing (Singer et al., 2021). Somatic mosaicism does not contribute remarkably to HCM (Núñez et al., 2013), unlike primary neurodevelopmental disorders.