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Review
. 2024 Jul 2;10(3):e001852.
doi: 10.1136/bmjsem-2023-001852. eCollection 2024.

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

Georgia Sarquella-Brugada  1   2   3   4 , Estefanía Martínez-Barrios  1   2   3 , Sergi Cesar  1   2   3 , Rocío Toro  5 , José Cruzalegui  1   2   3 , Andrea Greco  1   2   3 , Nuria Díez-Escuté  1   2   3 , Patricia Cerralbo  1   2   3 , Fredy Chipa  1   2   3 , Elena Arbelo  3   6   7   8 , Carles Diez-López  8   9   10 , Gonzalo Grazioli  11 , Norma Balderrábano  12 , Oscar Campuzano  4   8   13
Affiliations
Review

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

Georgia Sarquella-Brugada et al. BMJ Open Sport Exerc Med. .

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.

Keywords: Child; Exercise; Genetics; Review; Young.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Genetics of main inherited arrhythmogenic syndromes. Orange colour means carefully practice of exercise, especially high intensity/frequency. Red colour means high risk of malignant arrhythmias in exercise practice. However, every patient should be exhaustively studied before adoption of preventive measures and kind of exercise, intensity/frequency should be carefully discussed before contraindications. BrS, Brugada syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia; LQTS, long QT syndrome; SQTS, short QT syndrome.
Figure 2
Figure 2
Adoption of measures in young population diagnosed with inherited arrhythmogenic syndromes. Different items should be considering to adopt a personalised contraindication of exercise to reduce risk of malignant arrhythmias associated with any IAS. Clinical diagnosis (IAS, clinical history/family history, genetic); therapeutic measures (pharmacological, ICD); exercise (type of sport, intensity, frequency). IAS, inherited arrhythmogenic syndromes; ICD, implantable cardioverter-defibrillator.
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