Turner syndrome does not only affect growth or ovarian function: congenital cardiovascular defects are among the main determinants of morbidity and mortality in these patients. Yet long-term follow-up data had remained scarce. A new single-centre retrospective study, published in International Journal of Cardiology, has tracked the cardiac course of 84 patients with Turner syndrome and congenital cardiovascular anomalies over more than four decades, with follow-up spanning January 1980 to January 2025.
Two classic defects predominated in the cohort: bicuspid aortic valve, present in 40 patients (48%), and coarctation of the aorta, in 29 (35%). Nearly one in four patients (19, or 23%) had both at once. That combination is no coincidence: both share the same embryological origin in the development of the left ventricular outflow tract, and their coexistence marks the patients at highest cardiovascular risk from childhood onwards.
The most striking finding concerns the passage of time. In the bicuspid aortic valve group, aortic regurgitation rose from 6 patients (15%) at first registration to 17 (42.5%) at last follow-up. In the tricuspid aortic valve group, regurgitation also increased, from 1 patient (2.3%) to 12 (27.9%). In other words, valve deterioration does not stand still: it progresses in both valve types, though more forcefully when the valve is born with two leaflets instead of three. The last mean ascending aortic diameter, indexed to body surface area, was 20.4 ± 4.6 mm/m². Two aortic dissections occurred (2.7% of the cohort), a rare but potentially lethal event that justifies close surveillance of the aorta.
Even so, the functional status of survivors was generally good: 82% were in NYHA functional class I (no limitation in everyday activity), mean blood pressure was 121.7 ± 16.8 mmHg systolic and 76.1 ± 13.1 mmHg diastolic, and 96% remained in sinus rhythm. The bitter side is mortality: ten patients died during follow-up, with a median age at death of 41 years, and at least half of those deaths had a cardiac cause.
The clinical reading of these data is clear: bicuspid aortic valve and coarctation dominate the cardiac landscape of Turner syndrome and, although many patients remain functionally well for years, valve dysfunction progresses, aortic complications emerge and cardiovascular mortality remains a real threat. The authors conclude that these findings support structured, lifelong surveillance with periodic echocardiographic checks and multidisciplinary care. The study’s limitations are worth remembering: it is retrospective, from a single centre, and the median age at last follow-up was young (26 years), which probably underestimates what will happen as this cohort ages.
Source: Long-term cardiovascular morbidity and mortality in Turner syndrome patients with congenital heart disease: a single-center retrospective cohort study. Cafmeyer M, Van De Bruaene A, Troost E, Vandenberk B, De Meester P, Moons P, Decallonne B, Budts W. International Journal of Cardiology 2026;465(134964). DOI: 10.1016/j.ijcard.2026.134964.
Read the publication: https://doi.org/10.1016/j.ijcard.2026.134964 · PubMed: PMID 42838142
