Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report

Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report

Abstract Restrictive cardiomyopathy (RCM) is a rare cardiac disease characterized by the predominance of severe diastolic dysfunction, normal or mildly increased ventricular wall thickness, and either normal or mildly reduced ejection fraction. All known RCM genes are localized on autosomes. In most...

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Bibliographic Details
Main Authors: Tianjiao Wang, Weina Zhao, Lifang Wu, Qinlai Ying, Wen Zhu, Yiqun Teng, Xiaolin Liu
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Pediatrics
Subjects:
Restrictive cardiomyopathy
Hypertrophic cardiomyopathy
Desmin
Homozygous mutation
Case report
Online Access:https://doi.org/10.1186/s12887-025-05866-4
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