Zhang LL, Wang B, Wang J, Zhao J, Liu LW. Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy. World J Cardiol 2025; 17(8): 107847 [DOI: 10.4330/wjc.v17.i8.107847]
Corresponding Author of This Article
Li-Wen Liu, Chief Physician, Full Professor, Department of Ultrasound, Xijing Hypertrophic Cardiomyopathy Center, Fourth Military Medical University, No. 127 Changle West Road, Xi’an 710000, Shaanxi Province, China. liuliwen@fmmu.edu.cn
Research Domain of This Article
Cardiac & Cardiovascular Systems
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Cardiol. Aug 26, 2025; 17(8): 107847 Published online Aug 26, 2025. doi: 10.4330/wjc.v17.i8.107847
Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy
Lan-Lan Zhang, Bo Wang, Jing Wang, Jia Zhao, Li-Wen Liu
Lan-Lan Zhang, Bo Wang, Jing Wang, Jia Zhao, Li-Wen Liu, Department of Ultrasound, Xijing Hypertrophic Cardiomyopathy Center, Fourth Military Medical University, Xi’an 710000, Shaanxi Province, China
Co-first authors: Lan-Lan Zhang and Bo Wang.
Author contributions: Zhang LL and Wang B sorted out the published literature and wrote the manuscript, they contributed equally to this article, they are the co-first authors of this manuscript; Zhang LL, Wang B, Wang J, Zhao J, and Liu LW provided critical input, critically reviewed the manuscript, and contributed to discussion; Liu LW conceived the project; and all authors have read and approved the final manuscript.
Supported by National Natural Science Foundation of China, No. 82230065, No. 82371974 and No. 82272009.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Wen Liu, Chief Physician, Full Professor, Department of Ultrasound, Xijing Hypertrophic Cardiomyopathy Center, Fourth Military Medical University, No. 127 Changle West Road, Xi’an 710000, Shaanxi Province, China. liuliwen@fmmu.edu.cn
Received: April 2, 2025 Revised: May 12, 2025 Accepted: August 12, 2025 Published online: August 26, 2025 Processing time: 144 Days and 23.7 Hours
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.
Core Tip: The presence of sarcomere mutations makes the prognosis of hypertrophic cardiomyopathy (HCM) patients worse. Compared with the two most common thick myofilament genes, MYH7 carriers have an earlier onset of HCM. Compared with patients with thick myofilament gene mutations, patients with thin myofilament mutations have a worse prognosis. Among patients with thin myofilament gene mutations, TNNC1 positive probands have the worst prognosis. In this paper, the close relationship between HCM hypertrophy pattern and genetic variation was combed and insights were put forward, which provided a theoretical basis for genetic testing and personalized management of HCM patients.
