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Hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia in young patients
1Sibley Heart Center Cardiology, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA 30329, USA. friasp@kidsheart.com
Insights
Sudden cardiac death in young athletes, often caused by genetic heart conditions like hypertrophic cardiomyopathy, can be the first symptom. Early recognition of these conditions is crucial for medical providers.
Area of Science:
- Cardiology
- Genetics
- Sports Medicine
Background:
- Sudden cardiac death (SCD) affects approximately 1 in 200,000 young athletes annually.
- Genetic heart conditions, including hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), are leading causes of SCD in this population.
- These disorders often present in adolescence and can manifest as the first symptom of sudden death.
Purpose of the Study:
- To elucidate the genetics of common causes of sudden cardiac death in young athletes.
- To describe the clinical presentation of these genetic cardiac disorders.
- To outline diagnostic approaches for hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Main Methods:
- Literature review focusing on genetic cardiac disorders in young athletes.
- Analysis of clinical presentation and diagnostic criteria for HCM and ARVD/C.
- Synthesis of current medical knowledge on SCD in young athletes.
Main Results:
- Hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy are identified as primary genetic causes of SCD in young athletes.
- These conditions typically emerge during the second decade of life.
- Awareness of these entities is vital for evaluating symptoms like seizures, syncope, and palpitations.
Conclusions:
- Medical professionals must be vigilant for genetic cardiac disorders in young athletes presenting with concerning symptoms.
- Understanding the genetics, clinical features, and diagnostic pathways is essential for preventing sudden cardiac death.
- Early identification and management strategies are critical for athletes at risk.
Abstract:
The annual incidence of sudden cardiac death in young athletes is approximately 1 in 200,000. The most common causes include hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy. These genetic disorders typically manifest in the second decade of life and have the potential for sudden death as the first symptom. Medical care providers must be aware of these disease entities when evaluating patients with seizures, syncope, and/or palpitations. The purpose of this article is to describe their genetics, clinical presentation, and diagnosis.
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