Sarquella-Brugada Georgia, Martínez-Barrios Estefanía, Cesar Sergi, Toro Rocío, Cruzalegui José, Greco Andrea, Díez-Escuté Nuria, Cerralbo Patricia, Chipa Fredy, Arbelo Elena, Diez-López Carles, Grazioli Gonzalo, Balderrábano Norma, Campuzano Oscar
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
BMJ Open Sport Exerc Med. 2024 Jul 2;10(3):e001852. doi: 10.1136/bmjsem-2023-001852. eCollection 2024.
Sudden cardiac death is a rare but socially devastating event, especially if occurs in young people. Usually, this unexpected lethal event occurs during or just after exercise. One of the leading causes of sudden cardiac death is inherited arrhythmogenic syndromes, a group of genetic entities characterised by incomplete penetrance and variable expressivity. Exercise can be the trigger for malignant arrhythmias and even syncope in population with a genetic predisposition, being sudden cardiac death as the first symptom. Due to genetic origin, family members must be clinically assessed and genetically analysed after diagnosis or suspected diagnosis of a cardiac channelopathy. Early identification and adoption of personalised preventive measures is crucial to reduce risk of arrhythmias and avoid new lethal episodes. Despite exercise being recommended by the global population due to its beneficial effects on health, particular recommendations for these patients should be adopted considering the sport practised, level of demand, age, gender, arrhythmogenic syndrome diagnosed but also genetic diagnosis. Our review focuses on the role of genetic background in sudden cardiac death during exercise in child and young population.
心源性猝死是一种罕见但对社会具有毁灭性的事件，尤其是发生在年轻人身上时。通常，这种意外的致命事件发生在运动期间或运动刚结束后。心源性猝死的主要原因之一是遗传性心律失常综合征，这是一组具有不完全外显率和可变表达性的遗传疾病。运动可能会触发具有遗传易感性人群的恶性心律失常甚至晕厥，心源性猝死可能是首发症状。由于其遗传起源，在诊断或疑似诊断心脏通道病后，必须对家庭成员进行临床评估和基因分析。早期识别并采取个性化预防措施对于降低心律失常风险和避免新的致命事件至关重要。尽管由于运动对健康有益而被全球人群推荐，但对于这些患者，应根据所从事的运动、需求水平、年龄、性别、已诊断的心律失常综合征以及基因诊断情况，采取特定的建议。我们的综述聚焦于遗传背景在儿童和青年人群运动期间心源性猝死中的作用。
