文章基本信息

标题：TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report
本地全文：下载
作者：Francesco Cava ; Ernesto Cristiano ; Maria Beatrice Musumeci 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2021
卷号：27
页码：100743
DOI：10.1016/j.ymgmr.2021.100743
出版社：Elsevier B.V.
摘要：QTc prolongation is reported in patients with hypertrophic cardiomyopathy (HCM). However, the causes of the QTc interval increase remain unclear. The main contribution to QTc prolongation in HCM is attributed to the myocardial hypertrophy and related structural damage. In a 24-year-old male proband, affected by HCM and long QTc, we identified by Next Generation Sequencing a pathogenic variant in gene TNNI3 co-inherited with a damaging variant in KCNQ1 gene. This evidence suggests the possibility that QTc interval prolongation and its dispersion in HCM could be associated not only to the severity of left ventricular hypertrophy but also to the co-inheritance of pathogenic variants related to both long QT Syndrome (LQTS) and HCM. Although the simultaneous presence of pathogenic variants in genes related to different heart diseases is extremely rare, counseling and genetic testing appear crucial for the clinical diagnosis. Screening of LQTS genes should be considered in HCM patients to clarify the origin of long QTc, to provide more information about the clinical presentation and to evaluate the incidence of the co-existence of LQTS/HCM gene variants that could occur more frequently than so far reported.
关键词：Hypertrophic cardiomyopathy ; Long QT syndrome ; Next generation sequencing ; TNNI3 ; KCNQ1 ; HCM Hypertrophic cardiomyopathy ; ECG electrocardiographic ; LQTS long-QT syndrome ; LGE late gadolinium enhancement; late gadolinium enhancement ; NGS Next Generation Sequencing ; ACMG American College of Medical Genetics and Genomics ; ICD Implantable Cardioverter-Defibrillator