Ditaranto Raffaello, Pelletti Guido, Rossi Cesare, Biffi Mauro, Wilde Arthur A M, Biagini Elena, D'Errico Antonietta, Graziosi Maddalena
Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
Unit of Legal Medicine, Department of Medical and Surgical Sciences, University of Bologna, Italy.
JACC Case Rep. 2025 Mar 5;30(5):103174. doi: 10.1016/j.jaccas.2024.103174.
Cocaine consumption is a significant global problem, with an estimated 20 million users worldwide. Sudden cardiac death is frequently reported in this population, particularly among individuals <40 years of age. The role of underlying inherited heart disorders in these cases remains largely unexplored. We report the case of a patient who suffered a cocaine-induced sudden death, where a dedicated program investigating unexplained deaths in the young identified a SCN5A-related disease. We hypothesize that inherited heart diseases may contribute to cocaine-induced sudden cardiac death and that a multidisciplinary program systematically evaluating sudden deaths in young individuals is essential to uncover this association and reveal hidden risk factors. Integrating clinical data with traditional pathological examination and molecular autopsy is crucial for determining the cause of death and enabling cascade screening in relatives.
可卡因消费是一个重大的全球问题，据估计全球有2000万使用者。在这一人群中经常报告有心脏性猝死，尤其是在40岁以下的个体中。在这些病例中，潜在的遗传性心脏病的作用在很大程度上仍未得到探索。我们报告了一例因可卡因诱发猝死的患者，在一个专门调查年轻人不明原因死亡的项目中发现了一种与SCN5A相关的疾病。我们推测，遗传性心脏病可能导致可卡因诱发的心脏性猝死，并且一个系统评估年轻人猝死的多学科项目对于发现这种关联和揭示隐藏的风险因素至关重要。将临床数据与传统病理检查和分子尸检相结合对于确定死因以及对亲属进行级联筛查至关重要。
