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Individuals with a suspicion of aortic disease are discouraged to take part in most competitive sports.1 In the more prevalent and syndromic forms, such as Marfan syndrome (prevalence 1: 5000), a sports examination with echocardiography may reveal this condition, with great consequences for the fate (and especially career) of a young athlete. From the point of view of the most recent guidelines,1 2 the prevention of aortic dissection is emphasised as the main task of clinicians. Cut-off values and z-scores are supplied to identify those that could be at risk for a pathophysiological process leading to cardiovascular morbidity and mortality. At the same time, sports physicians are often struggling with the cases that may be less clear, where slight aortic dilatation may be considered physiological. While the initial steps are evident—thoroughly investigate if there are any signs of underlying diseases such as Marfan syndrome or related conditions—in individuals with a mild dilatation of the aortic root without any other signs of an underlying disease, the next steps to be taken can be less clear. The increased availability of genetic panels to detect inborn predispositions for a wide range of aortic disorders may tempt sports physicians to reach for this diagnostic modality. However, uncertain pathogenicity and extreme variable penetrance of found mutations may just …
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