Arrhythmogenic Right Ventricular Cardiomyopathy in a Young Athlete

Area of Science:

• Cardiology
• Pathology
• Sports Medicine

Background:

• Sudden death in young athletes is a rare but devastating event, with cardiac etiologies being a primary concern.
• Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac condition characterized by fibro-fatty replacement of the right ventricle, predisposing to ventricular arrhythmias and sudden cardiac death.

Observation:

• A 17-year-old male athlete with no prior medical history collapsed and died suddenly during exercise.
• Autopsy revealed significant right ventricular dilation, wall thinning, and microscopic evidence of myocyte loss replaced by fibro-fatty tissue, consistent with ARVC.
• Left ventricular hypertrophy was also noted, with otherwise unremarkable coronary arteries and valves.

Findings:

• The cause of death was determined to be arrhythmogenic right ventricular cardiomyopathy (ARVC).
• ARVC was identified as the underlying pathology responsible for the sudden cardiac death in this young athlete.
• The autopsy findings were specific for ARVC, excluding other common causes of sudden death in athletes.

Implications:

• This case highlights the importance of considering ARVC in the differential diagnosis of sudden cardiac death in young athletes.
• Increased awareness and potential screening strategies for ARVC may be crucial in preventing similar tragedies.
• Understanding the variable expressivity and incomplete penetrance of ARVC is vital for risk stratification and management in affected families.