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Updated: Jun 29, 2026
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Athlete's heart or hypertrophic cardiomyopathy?
Jörg Lauschke1, Bernhard Maisch
1Department of Internal Medicine and Cardiology, Philipps-Universität Marburg, Marburg, Germany. lauschke@med.uni-marburg.de
Summary
Distinguishing athlete's heart from hypertrophic cardiomyopathy (HCM) is crucial for athletes. Echocardiography is key, identifying differences in cardiac structure and diastolic function to prevent sudden cardiac death and reassure athletes.
Area of Science:
- Cardiology
- Sports Medicine
- Genetics
Background:
- Intensive endurance training induces cardiac adaptations, termed "athlete's heart."
- Athlete's heart can mimic hypertrophic cardiomyopathy (HCM), a genetic disorder affecting 0.2% of the population.
- HCM is a leading cause of sudden cardiac death (SCD) in young athletes.
Observation:
- Echocardiography is the primary diagnostic tool for differentiating athlete's heart from HCM.
- Athlete's heart typically presents as eccentric biventricular hypertrophy with normal left ventricular dimensions.
- HCM often shows asymmetric left ventricular hypertrophy with reduced ventricular diameter and potential outflow tract obstruction.
Findings:
- Physiological hypertrophy (athlete's heart) exhibits normal diastolic function with enhanced early filling.
- HCM patients frequently display diastolic dysfunction, primarily impaired relaxation.
- Systolic function is generally preserved in both conditions.
Implications:
- Accurate diagnosis prevents SCD in athletes and allows continued participation for those with athlete's heart.
- Further investigations like cardiac MRI, exercise testing, and genetic analysis aid in uncertain cases.
- Ongoing research into electrophysiological changes may refine diagnostic criteria.
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