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Published on: August 8, 2022
Unique Aspects of Hypertrophic Cardiomyopathy in Children
Madeleine Townsend1, Aamir Jeewa2, Michael Khoury3
1Department of Cardiology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.
Insights
Hypertrophic cardiomyopathy (HCM) is a heart muscle disease. Early diagnosis and treatment in children, especially after age one, lead to favorable outcomes similar to adults, with genetic testing guiding new therapies.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Hypertrophic cardiomyopathy (HCM) is a primary heart muscle disease causing left ventricular hypertrophy.
- HCM presents variably, including outflow tract obstruction, heart failure, arrhythmias, and sudden cardiac death.
- Infants under one year with HCM often have secondary causes like metabolic disorders or RASopathies, leading to poorer outcomes.
Purpose of the Study:
- To review the clinical presentation and outcomes of hypertrophic cardiomyopathy in children.
- To highlight the favorable prognosis for children diagnosed after one year of age.
- To discuss the role of genetic testing and emerging gene-specific therapies for HCM.
Main Methods:
- Literature review of hypertrophic cardiomyopathy in pediatric populations.
- Analysis of outcomes based on age at diagnosis and underlying causes.
- Discussion of current risk stratification and treatment strategies.
Main Results:
- Children diagnosed with HCM after one year of age generally have favorable outcomes, comparable to adults.
- Sudden cardiac death risk stratification and medical/surgical advancements improve pediatric HCM prognosis.
- Genetic testing is crucial for identifying at-risk individuals and developing targeted therapies.
Conclusions:
- Hypertrophic cardiomyopathy outcomes in children are significantly influenced by age at diagnosis and underlying etiology.
- Effective risk stratification and innovative treatments enhance survival rates for pediatric HCM.
- Advancements in genetic testing and gene-specific therapies offer promising future directions for managing HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a primary heart muscle disease characterized by left ventricular hypertrophy that can be asymptomatic or with presentations that vary from left ventricular outflow tract obstruction, heart failure from diastolic dysfunction, arrhythmias, and/or sudden cardiac death. Children younger than 1 year of age tend to have worse outcomes and often have HCM secondary to inborn errors of metabolism or syndromes such as RASopathies. For children who survive or are diagnosed after 1 year of age, HCM outcomes are often favourable and similar to those seen in adults. This is because of sudden cardiac death risk stratification and medical and surgical innovations. Genetic testing and timely cardiac screening are paving the way for disease-modifying treatment as gene-specific therapies are being developed.
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