Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 26, 2025; 13(15): 101272
Published online May 26, 2025. doi: 10.12998/wjcc.v13.i15.101272
MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy: A case report and review of literature
Ying Hong, Zhen Fan, Yi Guo, Hui-Hui Ma, Sheng-Zhi Zeng, Hu-Tao Xi, Jing Yang, Kai Luo, Rong Luo, Xiao-Ping Li
Ying Hong, Jing Yang, Department of Cardiology, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, Sichuan Province, China
Zhen Fan, Department of Geriatrics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
Yi Guo, Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
Hui-Hui Ma, Medical School, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
Sheng-Zhi Zeng, Department of Cardiology, Guanghan People's Hospital, Deyang 618399, Sichuan Province, China
Hu-Tao Xi, Department of Cardiology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
Kai Luo, Institute of Cardiovascular Diseases & Department of Cardiology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, Sichuan Province, China
Rong Luo, Institute of Geriatric Cardiovascular Disease, Chengdu Medical College, Chengdu 610500, Sichuan Province, China
Xiao-Ping Li, Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu 610072, Sichuan Province, China
Co-first authors: Ying Hong and Zhen Fan.
Co-corresponding authors: Rong Luo and Xiao-Ping Li.
Author contributions: Hong Y collected the clinical data and wrote the manuscript; Guo Y, Ma HH, Zeng SZ, Xi HT, Yang J and Luo K collected the clinical data; Fan Z, Luo R and Li XP perform the analysis with constructive discussions and approved the final version of the manuscript; all authors read and approved the final manuscript. Hong Y and Fan Z contributed equally to this work as co-first authors. Luo R has made substantial contributions to this manuscript, including proposing the core research idea, conducting thorough data analysis, and significantly revising the paper. These contributions were instrumental in shaping the scientific direction and ensuring the quality of the manuscript. Furthermore, Luo R played a critical role in addressing key scientific questions and refining the arguments, which were crucial for the paper’s successful submission and publication. Given the importance of these efforts and their direct impact on the study's completion, Luo R and Li XP appropriately designated as a co-corresponding author to recognize their significant role in the research process.
Supported by National Natural Science Foundation of China, No. 81770379.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: Xiao-Ping Li, PhD, Researcher, Doctor, Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, No. 32 Section 2 West 1st Ring Road, Chengdu 610072, Sichuan Province, China. lixiaoping0119@163.com
Received: September 9, 2024
Revised: November 3, 2024
Accepted: January 7, 2025
Published online: May 26, 2025
Processing time: 133 Days and 17.5 Hours
Core Tip

Core Tip: A subset of patients with hypertrophic cardiomyopathy (HCM) progress to a dilated phase of HCM (DPHCM), which is associated with a poor prognosis. Our findings corroborate the pathogenicity of the MYH7 (c.746G>A, p.Arg249Glu) mutation for DPHCM, and we hypothesize that the Arg249Gln mutation in the MYH7 gene may be responsible for the high mortality of DPHCM.