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肥厚型心肌病的基因型与临床表型之间的关系。

Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy.

作者信息

Zhang Lan-Lan, Wang Bo, Wang Jing, Zhao Jia, Liu Li-Wen

机构信息

Department of Ultrasound, Xijing Hypertrophic Cardiomyopathy Center, Fourth Military Medical University, Xi'an 710000, Shaanxi Province, China.

出版信息

World J Cardiol. 2025 Aug 26;17(8):107847. doi: 10.4330/wjc.v17.i8.107847.

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, mostly inherited in an autosomal dominant manner. It is a global heart disease with complex clinical phenotypes and gene expression. The prevalence rate in the population is 1:500-1:200. This article mainly introduces the diagnostic criteria, pathological manifestations, and genetic basis of HCM, which is the leading cause of sudden death in adolescents and athletes due to exercise, with 60%-70% showing familial clustering. It also discusses the latest progress in the relationship between different genotypes and clinical phenotypes of HCM patients.

摘要

肥厚型心肌病(HCM)是最常见的遗传性心血管疾病,大多以常染色体显性方式遗传。它是一种具有复杂临床表型和基因表达的全球性心脏病。人群患病率为1:500 - 1:200。本文主要介绍肥厚型心肌病的诊断标准、病理表现及遗传基础,它是青少年和运动员运动猝死的主要原因,60% - 70%有家族聚集性。还讨论了肥厚型心肌病患者不同基因型与临床表型关系的最新进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e799/12426981/689e80b172e4/wjc-17-8-107847-g001.jpg

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