There are two clocks in Turner syndrome, and they do not always run together. One measures age: the patients in the study below had a median age of 26 years at their last review. The other measures wear on the valves and the aorta, and that one keeps ticking even when the person feels well. A team at the University Hospitals of Leuven (Belgium) went back through 45 years of records — January 1980 to January 2025 — for 84 women with Turner syndrome and some form of congenital cardiovascular defect. Their conclusion, published in International Journal of Cardiology, is uncomfortable: many patients feel fine while the heart changes inside.
The shape of the cohort is the familiar one. A bicuspid aortic valve was present in 40 patients (48%), aortic coarctation in 29 (35%), and 19 women (23%) had both. At the end of follow-up, 82% were in NYHA class I, meaning no limitation in everyday life; 96% were in sinus rhythm and mean blood pressure sat around 121.7/76.1 mmHg. On paper, a stable and well-compensated group.
Regurgitation that grows without announcing itself
Echocardiography told a different story. Among women with a bicuspid valve, aortic regurgitation went from 6 cases (15%) at first registration to 17 (42.5%) at the last review. Among those with a tricuspid valve, it rose from 1 case (2.3%) to 12 (27.9%): it grew too, though from a lower starting point. In other words, the years damage the valve in both groups, but with a bicuspid valve the destination is far worse. The ascending aortic diameter indexed to body surface area came out at 20.4 ± 4.6 mm/m², reassuring on average — yet an average hides the tail of the distribution: two patients (2.7%) suffered an aortic dissection.
Ten deaths, at least half of them cardiac
Ten women died during follow-up, at a median age of 41 years, and cardiac causes accounted for at least half of that mortality. That is the finding that leads the authors to call for structured, lifelong surveillance: no writing off the heart of a 30-year-old patient who feels well and has not had an echocardiogram in years. The practical message is that the absence of symptoms is not the absence of disease, and that a bicuspid valve plus coarctation marks out a tighter schedule of check-ups.
The study has limits worth stating plainly: it is retrospective, single-centre and based on 84 patients, and the authors describe it with descriptive statistics only, with no adjustment that would let anyone calculate an individual’s risk. Nor does it compare the follow-up each patient actually received or report how often the echocardiograms were done. Even so, it offers something cross-sectional studies cannot: the whole film of four and a half decades, with the same patients growing older. And it leaves one very concrete question for the clinic: when was my last heart check, and what did they see in the valve?
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
