MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy: A case report and review of literature

doi:10.12998/wjcc.v13.i15.101272

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World Journal of Clinical Cases

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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).

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 1^st 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

Abstract

BACKGROUND

Hypertrophic cardiomyopathy (HCM) is one of the most prevalent inherited myocardial disorders and is characterized by considerable genetic and phenotypic heterogeneity. A subset of patients with HCM progress to a dilated phase of HCM (DPHCM), which is associated with a poor prognosis; however, the underlying pathogenesis remains inadequately understood.

CASE SUMMARY

In this study, we present a case involving a pedigree with familial DPHCM and conduct a retrospective review of patients with DPHCM with identified gene mutations. Through panel sequencing targeting the coding regions of 312 genes associated with inherited cardiomyopathy, a heterozygous missense mutation (c.746G>A, p.Arg249Glu) in the MYH7 gene was identified in the proband (III-5). Sanger sequencing subsequently confirmed this pathogenic mutation in three additional family members (II-4, III-4, and IV-3). A total of 26 well-documented patients with DPHCM were identified in the literature. Patients with DPHCM are commonly middle-aged and male. The mean age of patients with DPHCM was 53.43 ± 12.79 years. Heart failure, dyspnoea, and atrial fibrillation were the most prevalent symptoms observed, accompanied by an average left ventricular end-diastolic size of 58.62 mm.

CONCLUSION

Our findings corroborate the pathogenicity of the MYH7 (c.746G>A, p.Arg249Glu) mutation for DPHCM and suggest that the Arg249Gln mutation may be responsible for high mortality.

Keywords: Dilated phase of hypertrophic cardiomyopathy; Pedigree; MYH7 gene; Missense mutation; Literature review; Case report

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.