CONGRESS ABSTRACT

Introduction Out-of-hospital cardiac arrest is the third leading cause of death in industrialized countries. It has a high mortality rate, with survival at hospital discharge of 2–10%. In 90% of cases, the cause of cardiac arrest is attributable to an acute coronary event, cardiomyopathy, or primary rhythm disorders. Our patient presented with cardiac arrest at a young age and without apparent cardiovascular risk factors. Case presentation A 23-year-old female patient was brought to our hospital in a comatose state after an out-of-hospital resuscitated cardiac arrest. Laboratory tests, EKG, and CT scans of the brain and chest did not show any significant abnormalities. After ruling out extra-cardiac causes, the patient was transferred to the Coronary Intensive Care Unit. After regaining consciousness, the patient reported no known cardiovascular risk factors, family history of sudden cardiac death, or previous similar events. Echocardiography and coronary angiography were normal. Cardiac magnetic resonance showed no morphological or functional abnormalities. An endocavitary electrophysiological study showed atrioventricular conduction disturbance but without evidence of inducible ventricular arrhythmyas, and the endocavitary dual chamber defibrillator was implanted. Genetic testing was initiated and the patient was discharged on metoprolol 100 mg ¼ cp twice daily. Two days after discharge, the patient was readmitted to our hospital after a syncopal episode. Device interrogation revealed an episode of ventricular fibrillation, so the metoprolol dose was increased to ½ cp twice daily, and amiodarone 200 mg 1 cp/day was added. Genetic testing revealed that the patient was a carrier of a mutation in the RYR2 gene (c.12404G>T, p.R4135L), consistent with the diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT), so amiodarone therapy was interrupted and flecainide 100 mg twice a day was added. Over the following months, our patient experienced two further syncopal episodes due to ventricular fibrillation so therapy was further modified by replacing metoprolol with propranolol 80 mg 1 cp twice a day. Almost three months after hospital discharge, our patient experienced no further arrhythmyas. Conclusions CPVT is a rare disorder caused by a mutation in the RYR2 gene that leads to potentially fatal ventricular arrhythmias after physical exertion or emotional stress. Genetic testing is essential to start early treatment of affected individuals.