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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Hypertrophic cardiomyopathy: infants, children, and adolescents
1Lillie Frank Abercrombie Section of Pediatric Cardiology, Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA. samaskat@texaschildrenshospital.org
Insights
Hypertrophic cardiomyopathy (HCM) causes abnormal heart muscle thickening in children. This review covers pediatric HCM, focusing on its varied presentation and risks in infants, children, and adolescents.
Area of Science:
- Cardiology
- Pediatrics
- Genetics
Background:
- Hypertrophic cardiomyopathy (HCM) is defined by unexplained left ventricular hypertrophy (LVH) without ventricular dilation.
- HCM is linked to genetic mutations, family history, and sudden cardiac death risk.
- Pediatric HCM exhibits significant clinical variability, with limited data available.
Purpose of the Study:
- To review hypertrophic cardiomyopathy (HCM) in pediatric populations.
- To discuss clinical variability and data gaps in childhood HCM.
- To cover HCM presentation in infancy, childhood, and adolescence.
Main Methods:
- Literature review of pediatric hypertrophic cardiomyopathy.
- Synthesis of existing data on clinical presentation and outcomes.
- Analysis of genetic and familial aspects in children.
Main Results:
- HCM presents diversely in infants, children, and adolescents.
- Genetic factors and family history are significant in pediatric cases.
- Increased risk of sudden cardiac death is noted in affected children.
Conclusions:
- Further research is needed to understand pediatric HCM.
- Early diagnosis and management are crucial for affected children.
- This review consolidates current knowledge on childhood HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is characterized by inappropriate left ventricular hypertrophy (LVH) in the setting of a nondilated left ventricle. HCM is often associated with asymmetric LVH, a family history of HCM, sarcomeric genetic mutations, and an increased risk of sudden cardiac death. There is a wide clinical variability in HCM presenting during childhood and a relative lack of data on the pediatric population. This review will cover HCM presenting in infancy, childhood, and adolescence.
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