Syncope in the athlete - Minor changes, major diagnosis!

Area of Science:

• Cardiology
• Genetics
• Sports Medicine

Background:

• Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable myocardial disease primarily affecting the right ventricle.
• Early diagnosis is critical for preventing life-threatening ventricular arrhythmias, especially in athletes.

Observation:

• A 17-year-old athlete presented with syncope, palpitations, and dizziness during exercise.
• Initial assessment revealed tachycardia, hypotension, and wide complex tachycardia on ECG.
• Transthoracic echocardiography and cardiac magnetic resonance imaging showed right ventricular dilation, dysfunction, and characteristic late gadolinium enhancement.

Findings:

• Genetic testing identified a mutation in the desmocolin-2 (DSC-2) gene, confirming ARVC.
• The patient met four major criteria for ARVC according to the modified Task Force Criteria.
• A subcutaneous cardioverter-defibrillator was implanted for arrhythmia prevention.

Implications:

• This case highlights the importance of recognizing ARVC in young athletes presenting with syncope.
• Integrated diagnostic criteria, including imaging and genetics, are essential for accurate ARVC diagnosis.
• Proactive management strategies, such as device implantation, can mitigate risks associated with ARVC.