A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutations in TTN and SGCD genes

Le résumé fourni par la source

Sudden cardiac death (SCD) constitutes one of the most important unsolved challenges in the practice of forensic medicine. Most SCD are caused by hereditary conditions, of which hereditary cardiovascular diseases are the most frequent. More than 20 different pathological entities have been identified as a cause of SCD. Hypertrophic cardiomyopathy (HCM) is the major contributor to overall mortality resulting from ventricular tachyarrhythmia, followed by dilated cardiomyopathy (DCM) (1). The identification of multiple disease-causing gene variants has already improved patient management and increased our understanding of HCM/DCM associated with SCD risk in young adults; however, additional genetic modifiers exist (2). Herein we report a case of sudden death via DCM/HCM that may be strongly associated with sarcoglycan (SGCD) and titin (TTN) gene variants.

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