A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations

IF 3.9 Q1 SPORT SCIENCES BMJ Open Sport & Exercise Medicine Pub Date : 2024-07-01 DOI:10.1136/bmjsem-2023-001852
Georgia Sarquella-Brugada, Estefanía Martínez-Barrios, Sergi Cesar, Rocío Toro, José Cruzalegui, Andrea Greco, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Elena Arbelo, Carles Diez-López, Gonzalo Grazioli, Norma Balderrábano, Oscar Campuzano
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Abstract

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.
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年轻人遗传性心律失常综合征综述:基因诊断在运动建议中的作用
心脏性猝死是一种罕见但对社会极具破坏性的事件,尤其是发生在年轻人身上。通常,这种意想不到的致命事件发生在运动中或运动后不久。遗传性心律失常综合征是导致心脏性猝死的主要原因之一。在有遗传倾向的人群中,运动可能会引发恶性心律失常,甚至晕厥,而心脏性猝死则是首发症状。由于遗传原因,在诊断或疑似诊断出心脏通道病后,必须对家庭成员进行临床评估和基因分析。早期识别和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发作至关重要。尽管运动因其对健康的有益影响而受到全球民众的推荐,但针对这些患者的特别建议应考虑到所从事的运动、需求水平、年龄、性别、诊断出的心律失常综合征以及基因诊断。我们的综述侧重于遗传背景在儿童和青少年运动时心脏性猝死中的作用。
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来源期刊
CiteScore
7.10
自引率
4.20%
发文量
106
审稿时长
20 weeks
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