Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial condition that primarily affects the right ventricle. The hallmark characteristic of this disease is continual loss and replacement of normal myocardium with fibrofatty tissue. This replacement of tissue can lead to life-threatening arrhythmias and potentially sudden cardiac death (SCD). Current diagnostic modalities include, electrocardiography, family history, echocardiogram, MRI scan, angiography and myocardial biopsy.
Case Report: A 27-year-old athletic female with no known past medical history collapsed while playing frisbee in the park. Upon emergency medical service (EMS) arrival, the patient was unconscious, pulseless, and in ventricular fibrillation. After a successful resuscitation, the patient was transferred to the emergency department and admitted to the ICU. Electrocardiography revealed a QT interval of 460 milliseconds and T-wave inversion in V1, V2, and V3. Transthoracic echocardiogram revealed a left ventricular ejection fraction (LVEF) of 30% along with moderate enlargement and reduced function of the right ventricle. Genetic testing showed the patient was heterozygous for a novel variant of uncertain significance in the DSC2 gene that codes for desmosomal protein desmocollin-2. Management at this time included a wearable defibrillator for 30 days, ß-blockers, and abstaining from moderate and severe physical activity. The patient then received a single chamber subcutaneous intracardiac device (ICD) and was counseled on avoiding strenuous physical exertion. Six months later, she received an implantable ICD. The patient’s first degree family members were all offered screenings.
Conclusion: This case demonstrates the complex workup involved as well as the therapeutic options for patients with ARVC. This case also highlights the importance of counseling, affected patients and unaffected carriers, as well as screening of first-degree relatives in hopes of preventing serious unwanted outcomes.

Keywords: Arrhythmia, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Sudden cardiac arrest, Sudden cardiac death