Arq. Bras. Cardiol. 2017; 108(3): 263-270

Genetic Evaluation, Familial Screening and Exercise

Ricardo Stein, Juan Pablo Trujillo, Anderson Donelli da Silveira, Arsonval Lamounier Júnior, Lorenzo Monserrat Iglesias

DOI: 10.5935/abc.20170015

Introduction

Regular physical activity practice benefits individuals of all ages, sexes and ethnicities. If on one hand the practice of moderate exercise is considered a healthy activity that favors the cardiovascular system, on the other, high-intensity exercise for a long period can increase the risk for sudden death (SD). Even considering the huge number of individuals exercising daily, SD in that context is rare. However, the prevention of SD can be difficult and it has significant repercussion, mainly among young practitioners of leisure exercise or athletes. From the epidemiological viewpoint, cardiac SD affects 200,000 to 400,000 individuals in the United States of America (USA) annually. In the sports scenario, around 200 athletes per year are estimated to have a fatal event. In Spain, the national registry of SD in athletes reported 180 cases from 1995 to 2007, suggesting an incidence of 15 to 20 cases per year.

For athletes, preparticipation evaluation (PPE) is indicated, and can be effective in preventing cardiac SD in that context. However, that type of screening has great variability between different countries and entities that perform it. In the sports context, genetic evaluation is performed only in specific cases.

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