Working Diagnosis:
Based off of major criteria of T-wave inversions in V1-V3 and depressed RVEF

Treatment:
The patient was started on metoprolol. She initially refused placement of an automatic implantable cardiac defibrillator (AICD) due to cosmetic concerns of the device and therefore discharged with an external defibrillator. She was counseled on discontinuation of exercise as this can advance the disease progression of ARVC/D. Upon follow up, she proceeded with placement of an AICD.

Outcome:
The patient initially elected to discontinue her beta-blocker and go for a run. She subsequently experienced an appropriate ICD firing due to an episode of ventricular tachycardia. She has since continued her beta blocker. She has not followed up with recommended genetic testing. The patient was instructed to not return to physical activity as exercise increases the risk of ventricular arrhythmia and worsening of cardiac function in patients with ARVC/D.

Author's Comments:
ARVC/D is a known cause of sudden cardiac death in athletes. Athletes diagnosed with ARVC/D should be counseled on cessation of moderate to vigorous physical activity due to increased risk of ventricular arrhythmia and acceleration of disease progression (Maron et al., 2004).

Editor's Comments:
This is an interesting case of a rare, but important disorder. ARVC/D is responsible for 11-22% of all causes of sudden cardiac death. The pathology is attributed to defective desmosomes that lead to poor myocyte adhesion with subsequent cardiac damage and remodeling, predisposing the heart to arrhythmia. AHA guidelines do not recommend generalized preparticipation screening for this disorder, though screening recommendations vary by country and may be influenced by differences in disease prevalence. The case stresses the importance of proper diligence and diagnostic approach for an athlete exhibiting cardiac symptoms during exertion. Major and minor criteria exist for the diagnosis, and were initially developed in 1994 and revised in 2010.
ARVC/D is an autosomal dominant disease with incomplete penetrance and may affect 30-50% of family members. In this case, additional genetic counseling is appropriate to guide the patient and family on testing options to detect ARVC/D in asymptomatic family members.
It is important for the sports medicine physician to coordinate care and give recommendations on activity restrictions. In this case the recommendation to avoid moderate to vigorous activity is appropriate.

Marcus et al. Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Proposed Modification of the Task Force Criteria. Circulation 2010; 121(13)1533-1541.)

Oliviero L, Lawless C. Making Prudent Recommendations for Return to Play in Adult Athletes with Cardiac Conditions. Current Sports Medicine Reports 2011; 10(2):65-77

References:
Maron et al. AHA Scientific Statement. Recommendations for Physical Activity and Recreational Sports Participation for Young Patients With Genetic Cardiovascular Diseases. Circulation. 2004;109:2807- 2816.

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