一名年轻男性耐力运动员心脏性猝死。

IF 1.4 Q2 MEDICINE, GENERAL & INTERNAL Journal of Osteopathic Medicine Pub Date : 2023-09-01 DOI:10.1515/jom-2023-0097
Kevin D Seely, Kentlee B Crockett, Andrew Nigh
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引用次数: 1

摘要

心源性猝死(SCD)是一种罕见但毁灭性的事件,可发生在年轻运动员。虽然肥厚性梗阻性心肌病是SCD最常见的病因,但一些其他遗传异常也被确定为心律失常。然而,没有常规筛查这些其他的遗传异常。此外,摄入咖啡因、兴奋剂药物或长时间运动都可能增强潜在的心律失常。如果发生SCD,应立即准确地进行高级心脏生命支持(ACLS)。作者提出了一个其他健康的年轻男性在马拉松比赛中晕倒,尽管采取了积极的措施也无法复苏的情况。经过积极的复苏努力,患者最终死亡。尸检未发现心脏结构异常,死因确定为病因不明的心律失常。死后基因检测显示钙电压门控通道辅助亚基β 2 (CACNB2)的杂合变异,这是一种与心律失常和钙通道病相关的基因。毒理学显示他服用了安非他明。本病例强调了具有心律失常基因变异的年轻运动员心脏死亡的显著风险,特别是在耐力运动的背景下。
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Sudden cardiac death in a young male endurance athlete.

Sudden cardiac death (SCD) is a rare yet devastating event that can occur in young athletes. Although hypertrophic obstructive cardiomyopathy is the most common cause of SCD, some other genetic abnormalities have been identified as proarrhythmic. However, there is not routine screening for these other genetic abnormalities. Furthermore, consumption of caffeine, stimulant medication, or prolonged exercise can potentiate the underlying arrhythmic potential. In the event of SCD, advanced cardiac life support (ACLS) should be performed immediately and exactly. The authors present a case of an otherwise healthy young male who collapsed during a marathon and could not be resuscitated despite aggressive measures. After aggressive resuscitative efforts, the patient ultimately expired. A postmortem autopsy revealed no cardiac structural abnormalities, and the cause of death was determined to be cardiac arrhythmia of undetermined etiology. Postmortem genetic testing revealed a heterozygous variation in calcium voltage-gated channel auxiliary subunit beta 2 (CACNB2), a gene associated with arrhythmia and calcium channelopathy. Toxicology showed therapeutic levels of amphetamine. This case highlights the eminent risk of cardiac death in young athletes with proarrhythmic genetic variations, especially in the setting of endurance sport.

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来源期刊
Journal of Osteopathic Medicine
Journal of Osteopathic Medicine Health Professions-Complementary and Manual Therapy
CiteScore
2.20
自引率
13.30%
发文量
118
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