Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 7: Aortic Diseases, Including Marfan Syndrome : A Scientific Statement From the American Heart Association and American College of Card
- ACC/AHA Scientific Statements;
- aortic diseases;
- bicuspid aortic valve;
- familial thoracic aortic aneurysm;
- Marfan syndrome
Acute aortic dissection or rupture in Marfan syndrome or other aortopathies is an important cause of sudden death in athletes (1). Increased blood pressure and aortic stress during intense physical exertion place the patient with Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysm (TAA) and dissection syndrome, bicuspid aortic valve (BAV) aortopathy, aortic aneurysm, or other genetically triggered aortic diseases at risk for aortic catastrophe from aortic dissection or rupture or may accelerate aneurysm formation. Therefore, for people with aortic disease or a condition associated with aortic disease, discussion about safe levels of low-intensity, noncompetitive exercise should be emphasized beginning at a young age. This is important for a healthy lifestyle and to prevent social stigmatization, which may occur when physical activity is restricted excessively in young people.
Marfan syndrome, an autosomal dominant disorder of connective tissue with an estimated prevalence of 1 in 5,000 to 10,000, is caused by abnormal fibrillin-1 attributable to mutations in the FBN1 gene (2). Manifestations involve multiple organ systems, including the aorta, heart and valves, skeleton, eye, lungs, and dura. FBN1mutations can be identified in the vast majority of patients satisfying the revised Ghent criteria for Marfan syndrome (2). The diagnosis of Marfan syndrome is made by use of clinical criteria, imaging, family history, and genetic testing as outlined in the revised Ghent criteria ( Table 1 and Table 2) (2). Cardiovascular features of Marfan syndrome include mitral valve prolapse, mitral regurgitation, aortic root dilatation (most pronounced at the sinuses of Valsalva), and aortic dissection (2). The descending aorta, although less commonly involved in young patients, is also at risk for aneurysm formation and dissection.
Autor / Fonte:Alan C Braverman, Kevin M Harris, Richard J Kovacs, Barry J Maron Journal of the American College of Cardiology 2015 October 27