ABC | Volume 112, Nº3, March 2019

Updated The Brazilian Society of Cardiology and Brazilian Society of Exercise and Sports Medicine Updated Guidelines for Sports and Exercise Cardiology - 2019 Arq Bras Cardiol. 2019; 112(3):326-368 Table 6 – Recommendations by age group and competitive level Leisure Amateurs Professionals Children/adolescents Initial evaluation + 12-lead ECG Initial evaluation + 12-lead ECG Initial evaluation + 12-lead ECG 18-35 years Initial evaluation + 12-lead ECG Initial evaluation + 12-lead ECG Initial evaluation + 12-lead ECG 35-59 years Initial evaluation + CAD risk evaluation + 12-lead ECG + (consider functional test) Initial evaluation + CAD risk evaluation + 12-lead ECG + (consider functional test) Initial evaluation + CAD risk evaluation + 12-lead ECG + (consider functional test) > 60 years Initial evaluation + 12-lead ECG + functional test Initial evaluation + 12-lead ECG + functional test Initial evaluation + 12-lead ECG + functional test 12-lead ECG: resting 12-lead electrocardiogram; CAD: coronary artery disease. 2.3.8. Final Recommendations The recommendations in Table 6 can be used as a population screening research strategy. Associations and governing councils of professional athletes currently have their own protocols, given the legal and economic issues involved. PPS based on initial clinical consultation and 12-lead ECG can help identify athletes at greater risk of SD. 3. Genetic Evaluation and Exercise According to consensus and expert opinion, genetic assessment is not routinely recommended for athletes. If the question of whether a 12-lead resting ECG should be included in routine PPS is still being discussed, it follows that there must be a pressing reason for genetic investigation of an athlete. There are two occasions when genetic evaluation is especially well indicated when: 74 a) there is a family history of hereditary heart disease (cardiomyopathy, channelopathies, aortic diseases) or suspicion thereof (episodes of syncope, arrhythmias, cardiac arrest/SD). In such cases, it is important to point out that genetic study must first be performed on the individual or an effected family member. When a causal mutation has been detected, then the other family members should be studied (including the athlete if not initially tested); b) the athlete has a phenotype that strongly indicates an inherited disease (signs, symptoms and/or test results suggestive or compatible with a specific disease). 75,76 Clinical genetic assessment should always be the first step before genetic testing is conducted. This assessment should include a thorough anamnesis of family history as well as a complete physical examination. Family history should include aspects such as the age of symptom onset, the activities that triggered the symptoms, diagnosed diseases, and the number of affected relatives and degree of kinship. Thus, a thorough understanding the family tree or “family pedigree” will guide the investigation toward the affected side of the family. When there are no suspect first-degree relatives, the study should be extended to another generation if there is a great suspicion of inherited heart disease. More recent studies have highlighted the role of genetic study in the “molecular autopsy” of individuals without anatomical changes who died suddenly. 77-79 A comprehensive analysis of genes related to SD in subjects who died suddenly during exercise has identified potential causative variants. However, the effects of many genetic variants are still undetermined and further study is needed to understand their clinical significance. However, comprehensive genetic analysis of individuals who died during exercise could determine potential causative variants and help identify relatives at risk. 77 Specific recommendations about genetic analysis are addressed in the sections on inherited diseases in this Guideline. 3.1. Positive Genotype and Negative Phenotype Individuals can be considered to have positive genotype/ negative phenotype when: • They have a potentially pathogenic mutation. • Complementary exams indicate no clinical manifestations or structural/electrical changes in the heart. The question is whether these subjects are at increased risk of SD, even without the signs of structural heart disease. This is of paramount importance because in certain cases the adrenergic stress of intense or competitive exercise can trigger complications and SD. Reviewing the family history of inherited heart disease can be a great challenge, which is mainly due to variable expressivity (i.e., severity frequently varies, even within the same family), as well as to reduced penetrance (i.e., some patients may never develop the disease). 80 Many investigated diseases are autosomal dominant, although some are due to de novo mutations. The age of onset may also vary, with patients remaining asymptomatic over a long period of the disease, which makes initial clinical diagnosis difficult. 76 When faced with this diagnostic challenge, we must determine that the phenotype is truly negative. A thorough cardiologic investigation with ECG, echocardiogram, cardiac magnetic resonance, Holter monitoring, and provocative tests (exercise or drugs) should be performed when genetic disease is suspected. 81 The current European PPS recommendations state that after a detailed questionnaire (including symptoms and family history) and clinical examination, priority should be given to 12-lead ECG. Athletes with two or more “borderline ECG findings” or any “abnormal ECG findings” require further investigation. 76 337