Key result
A 17-year-old male who suffered a cardiac arrest was diagnosed with arrhythmogenic right ventricular cardiomyopathy via genetic testing and successfully treated with an ICD and medical therapy.
Case Report (n=1)
No
ARVC can present as sudden cardiac death in previously asymptomatic adolescents, underscoring the critical role of CPR and secondary prevention with an ICD.
Aborted SCD in asymptomatic adolescents warrants ARVC genetic evaluation; extends compound PKP2/DSC2 phenotype but leaves broader screening open.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare, genetically-inherited cardiomyopathy that may be fatal. We present the case of a 17 year old male who presented after a witnessed cardiac arrest with indeterminate echocardiogram and electrocardiogram (ECG) findings for a specific etiology. Genetic testing revealed a mutation in the PKP2 and DSC2 genes, consistent with ARVC. This report outlines the presentation of ARVC as an aborted sudden cardiac death episode in a previously asymptomatic teenager, investigations for ARVC and highlights the importance of adequate cardiopulmonary resuscitation in the overall prognosis. Implantable cardiac defibrillator (ICD) placement for secondary prevention is necessary.
No takes yet. Share an insight, caveat, or question.
Jan et al. (2022) conducted a case report in Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=1). Implantable cardiac defibrillator (ICD) and medical therapy was evaluated. A 17-year-old male who suffered a cardiac arrest was diagnosed with arrhythmogenic right ventricular cardiomyopathy via genetic testing and successfully treated with an ICD and medical therapy.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: