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
{"title":"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","authors":"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","doi":"10.1136/bmjsem-2023-001852","DOIUrl":null,"url":null,"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.","PeriodicalId":47417,"journal":{"name":"BMJ Open Sport & Exercise Medicine","volume":null,"pages":null},"PeriodicalIF":3.9000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations\",\"authors\":\"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\",\"doi\":\"10.1136/bmjsem-2023-001852\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":47417,\"journal\":{\"name\":\"BMJ Open Sport & Exercise Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.9000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMJ Open Sport & Exercise Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/bmjsem-2023-001852\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"SPORT SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Open Sport & Exercise Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bmjsem-2023-001852","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"SPORT SCIENCES","Score":null,"Total":0}
A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations
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.