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Updated: Aug 27, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Hypertrophic cardiomyopathy with heart failure and ST-segment elevation of the lateral wall
Lin Bai1, Yali Wang1, Fei Chen1
1Department of Cardiology, West China Hospital, Sichuan University, Chengdu, China.
Insights
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease. This case highlights an atypical presentation of HCM, emphasizing the need for comprehensive diagnostics beyond typical symptoms.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Medical Imaging
Background:
- Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiovascular disease, typically caused by single-gene mutations.
- Clinical presentations of HCM vary widely, from asymptomatic carriers to severe left ventricular outflow tract obstruction and end-stage disease.
Abstract:
Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular disease that is inherited from a single gene. Its clinical manifestations range from asymptomatic mutant gene carriers to patients with severe left ventricular effluent tract obstruction and end-stage HCM with motor restriction. In this case, we present a patient with the main presentation of heart failure and ST-segment elevation of the lateral wall, as determined by electrocardiogram. The patient was finally diagnosed with HCM because of genetic testing and the presentation of extensive myocardial fibrosis with reduced systolic function on cardiac magnetic resonance imaging. The patient's clinical findings, electrocardiogram, and cardiac magnetic resonance imaging were different from those of typical patients with HCM.
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