부산대학교 도서관

Introduction: Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a rare cause of cardiomyopathy and sudden cardiac death. Often times, diagnosis relies on electrocardiography findings and magnetic resonance imaging of cardiac tissue, when available. Rarely, diagnosis is confirmed via histological evidence from an affected sibling. Case Report: We present a rare case of ARVD diagnosed via characterization of cardiac tissue of an affected, deceased sibling. A 21-year old gentleman presented to the emergency department following an episode of loss of consciousness. Chest radiography revealed cardiomegaly and electrocardiogram (ECG) revealed deep T-wave inversions in leads V2 to V4, with ventricular ectopic beats. Troponin-I levels were elevated at 480 pg/ml. It was revealed that the patient had a sibling who had died from an unknown cause, 5 years prior. His younger brother, 14 years of age at the time, had collapsed whilst playing basketball in a school compound. Unfortunately, he was pronounced dead on arrival to a medical facility. Autopsy findings revealed epicardial surfaces infiltrated with excessive fat tissue and with nodular fibrosis with cut sections showing diffuse transmural fibrofatty replacement of the right ventricular free wall extending to the endocardium involving right ventricular septum. This knowledge led to our patient having a cardiac MR performed, confirming a diagnosis of ARVD. Conclusion: The case highlights how having knowledge and confirmation of the inherited condition led to a quicker and more confident decision in managing a patient at high risk of SCD, as our patient was able to obtain an implantable cardiac defibrillator without much hesitation. [ABSTRACT FROM AUTHOR]