Thoracic Aortic Dilation: Implications for Physical Activity and Sport Participation

Abstract

Thoracic aortic dilatation is a progressive condition that results from aging and many pathological conditions (i.e., connective tissue, inflammatory, shear stress disorders, severe valvular heart disease) that induce degenerative changes in the elastic properties, leading to the loss of elasticity and compliance of the aortic wall. Mild aortic root enlargement may be also observed in athletes and is considered as a normal adaptation to regular exercise training. On the other hand, high-intensity physical activity in individuals with a particular genetic substrate, such as those carrying gene variants associated with Marfan syndrome or other inherited aortopathies, can favor an excessive aortic enlargement and trigger an acute aortic dissection. The evaluation of the aortic valve and aortic root diameters, as well as the detection of a disease-causing mutation for inherited aortic disease, should be followed by a tailored decision about sport eligibility. In addition, the risk of aortic complications associated with sport in patients with genetic aortic disease is poorly characterized and is often difficult to stratify for each individual athlete. This review aims to describe the relationship between regular physical activity and aortic dilation, focusing on patients with bicuspid aortic valve and inherited aortic disease, and discuss the implications in terms of aortic disease progression and sport participation.

The role of genetic testing in Marfan syndrome

“…Understanding the genotype–phenotype correlations in MFS has significant implications in clinical practice. For example, the identification of genetic variant associated with a high risk of aortic events, such as haploinsufficiency-type variants or in-frame variants leading to a cysteine loss at the protein level, should prompt aggressive medical therapy [15] and restriction from high-intensity exercise and competitive sports [16], regardless of the aortic diameters [17 ▪ ]. The type of FBN1 variant detected can also guide the timing of follow-up, the prophylactic aortic root surgery, and provide clearer answer to patients and family members during genetic counseling.…”

Hereditary Thoracic Aortic Diseases

“…Competitive sports are recommended only for low-risk individuals [ 74 ]. Generally, power exercises are not recommended, while skill sports with a lower impact on blood pressure are preferred [ 75 ].…”

“…There is no strong evidence to discourage moderate physical exercise in individuals with aortopathy. Risk stratification is crucial because of the need to identify patients with a progression of aortic dilation and at increased risk of fatal events over time [ 74 , 75 ].…”

Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

“…Aortopathies and pulmonary arterial hypertension, including thoracic aortic aneurysm (TAA), abdominal aortic aneurysm (AAA), pulmonary arterial hypertension (PAH), Rendu–Osler–Weber syndrome, Marfan syndrome, and type A aortic dissection, are mainly responsible for aneurysm formation and dissection and pulmonary hypertension (Bhandari et al, 2020; Monda et al, 2022). Aortopathies and pulmonary arterial hypertension may occur as a sporadic phenomenon or as a familial disorder following a classical Mendelian or a non‐classical inheritance pattern (Goyal et al, 2017).…”