Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Abstract

Objective: Congenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS). The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults. Design/methods: We recruited 336 patients with TS from a network of tertiary centers. We reviewed their files, checking for cardiovascular events, cardiac valve abnormalities, and aortic diameters indexed to body surface area (BSA) from magnetic resonance imaging (nZ110) or echocardiography (nZ300). Results: Informative cardiovascular data were available for only 233 patients. Vascular surgery was reported in 7.4% of the cohort. The first cause of surgery was aortic coarctation, detected in 6.9% at a median age of 9.5 (range: 0-60) years. Bicuspid aortic valve (BAV) was detected in 21% at a median age of 20 years (25th-75th percentiles: 15-30). At least one aortic diameter exceeded 32 mm in 12% of the cohort. This was detected at a median age of 19 (7-30) years. When indexed to BSA, at least one aortic diameter exceeded 20 mm/m 2 in 39% of the cohort. Conclusion: Our study shows that cardiovascular monitoring for TS patients is currently insufficient in France. BAV is present at birth, but often remains undiagnosed until later in life. Therefore, improved management in cardiovascular monitoring is required and a more systematic approach should be taken.

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

“…Statistically significant relationships between 45,X karyotype and BAV, as well as between 45,X and aortic dilatation, were confirmed in the French cohort study and a more frequent cardiovascular follow-up for patients with X monosomy was strongly recommended [14]. Mortesen et al did not find a direct influence of karyotype on the diameter of aorta, but it is probably associated with the indirect influence via bicuspid aortic valve and aortic coarctation [48].…”

“…These findings are associated with various connective tissue diseases such as Marfan or Turner syndromes, etc. There has been some research about the influence of disruption of the transforming growth factor b pathway [14], which causes lesion of ascending aorta [23]. Further research into the genetic aetiology of the cardiovascular phenotype of TS is needed [37].…”

“…Epidemiological studies have revealed a three-fold higher mortality in the TS population than the general population, because of the cardiovascular events affecting young women [9,14]. Cardiovascular findings occurring in TS might be congenital or acquired [18].…”

“…Monitoring is based on expert consensus and includes clinical and laboratory evaluation, blood pressure measurement, echocardiography, and cardiovascular magnetic resonance imaging [3,14,27] but the follow-up remains quite poor. This paper is focused on the aortic events which are characteristic for TS.…”

“…The DuBois and DuBois formula is used to estimate the approximate body surface area for adults [14].…”