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............................................................................................................................................................ 4.7.1.6 Follow-up recommendations Lifelong and regular multidisciplinary follow-up at an expert centre is required. Echocardiography and CCT/CMR are the principal examinations.

4.7.1.7 Additional considerations

• Exercise/sports: patients should be advised to avoid exertion at maximal capacity, competitive, contact, and isometric sports. Risk estimation based on aortic size has been suggested by Budts et al.24 • Pregnancy: in genetically confirmed Marfan/HTAD, there is a 50% transmission risk for both men and women. Proper and timely genetic counselling is needed. Women with an aortic root diameter >45 mm are strongly discouraged from becoming pregnant without prior repair because of the increased risk of dissection.43 An aortic root diameter <40 mm rarely presents a problem, although a completely safe diameter does not exist. With an aortic root 4045 mm, previous aortic growth and family history are important factors when considering repair prior to pregnancy. After repair of the ascending aorta, Marfan patients remain at risk for dissection of the residual aorta (see section 3.5.7). • IE prophylaxis: recommended only for high-risk patients (see section 3.4.6).

4.7.2 Bicuspid aortic disease Depending on the reported series, 2084% of patients with a BAV will develop ascending aortic dilatation,212 indicating that BAV should be regarded as part of a spectrum of valvluo-aortopathy and that bicuspid aortic disease may be a more appropriate term. Although the relative contribution of intrinsic/genetic wall abnormalities and altered haemodynamics remains debated, both factors are probably involved. In the absence of significant valvular dysfunction, aortic dilatation in the setting of bicuspid aortic disease typically evolves asymptomatically. With increasing diameters, however, the risk for acute aortic dissection rises. Compared with the general population, the dissection incidence in bicuspid aortic disease patients is eight times higher, which is in absolute numbers still a low risk (31/100 000 patient years)172,176,213 and much lower than in Marfan/HTAD. Observational studies indicate that the clinical outcome in bicuspid aortic disease patients is more similar to that of the general population with aneurysms and represents a more benign aortopathy than Marfan/ HTAD.176,214

CoA is associated with an increased risk for dissection.215 For diagnostic work-up see section 4.7.1.3. To this date, no evidence for medical treatment of aortic dilatation in the setting of bicuspid aortic disease is available, but it may be reasonable to consider beta blockers or ARBs as first-line treatment for arterial hypertension.

Indications for intervention are summarized in the Recommendations for aortic surgery in aortopathies table. Familial occurrence of BAV has clearly been established with rates of 510% in first-degree relatives in various studies.216 Echocardiographic screening in first-degree relatives of BAV patients is recommended and may be appropriate, particularly in boys, in athletes, and if hypertension is present. Rare pathogenic variants in a number of genes account for <5% of all bicuspid aortic disease cases and routine genetic testing in this setting is not indicated but may be considered in familial cases.140 There are no data on the risk for dissection related to pregnancy in women with a dilated aorta. According to the 2018 ESC Guidelines for the management of cardiovascular disease during pregnancy,43 women should be counselled against pregnancy when the aortic diameter is >50 mm. For treatment of AR, see 2017 ESC/EACTS Guidelines on the management of valvular heart disease.25

4.7.3 Turner syndrome Turner syndrome is caused by a partial or complete monosomy of the X-chromosome and occurs in 1 in 2500 live-born females.217 Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, diabetes mellitus, osteoporosis, and autoimmune disorders. CHD, occurring in approximately 50% of women with Turner syndrome, includes a high incidence of BAV, CoA, partial anomalous pulmonary venous connection, left SVC, elongated transverse aortic arch, dilatation of the brachiocephalic arteries, and aortic dilatation. Given this high prevalence of abnormalities, every woman with Turner syndrome should be seen by a cardiologist at least once.217 Even in the absence of CHD, all individuals with Turner syndrome have a generalized arteriopathy and Turner syndrome alone is an independent risk factor for thoracic aortic dilation. Aortic dissection (both type A and type B) occurs in approximately 40 per 100 000 person-years compared with 6 per 100 000 person-years in the general population.218 For diagnostic work-up see section 4.7.1.3. Indications for intervention are summarized in the Recommendations for aortic surgery in aortopathies table. With advances in assisted reproductive technology and oocyte donation, an increasing number of women with Turner syndrome are now able to become pregnant. The presence of aortic dilatation and CHD increases the risks of pregnancy and Turner syndrome women are also at increased risk of hypertensive disorders, including pre-eclampsia. All women with Turner syndrome should be counselled about the increased cardiovascular risk of pregnancy and fertility treatment.43 Downloaded from academic.oup.com/eurheartj/article/42/6/563/5898606 by guest on 07 October 2026