In Turner syndrome, the heart is the organ that demands the closest watch. A bicuspid aortic valve, coarctation of the aorta and other congenital defects turn up far more often than in the general population, and they are the leading cause of illness and death in these women. Yet data on how patients born with a heart defect fare over the long term remain thin — and even thinner when it comes to comparing them with people who had the same defect repaired but do not have the syndrome.
A team of researchers based in China has published a retrospective study in Pediatric Research that tries to fill part of that gap. They reviewed the records of 289 patients with Turner syndrome seen between 2016 and 2024 and split them into three groups: 43 who had undergone surgery for congenital heart disease, 68 with an unrepaired defect and 178 with no cardiac anomaly at all. In addition, each surgical patient was matched one to one with a woman of the same age operated on for the same malformation with the same technique but without Turner syndrome, so the analysis could separate what the chromosome contributes from what the operation itself does.
The first finding concerns the karyotype. Among patients with congenital heart disease, full monosomy X — 45,X without mosaicism — clearly predominated: it was present in 67.6% of them versus 41.0% of those with a healthy heart, a statistically significant difference. In the multivariable analysis, which adjusts for all the other variables at once, that 45,X karyotype was linked to an almost threefold higher likelihood of heart disease (odds ratio 2.97; 95% confidence interval 1.73-5.11). In other words, losing one X chromosome entirely appears to weigh more heavily on cardiac development than mosaic forms, in which some cells keep both chromosomes.
The second finding is metabolic and newer ground. Raised total cholesterol was also independently associated with congenital heart disease, with an odds ratio of 2.35 (95% confidence interval 1.19-4.62). Put plainly: patients with high cholesterol were more than twice as likely to also have a cardiac malformation. The result fits the cardiometabolic risk already attributed to Turner syndrome and suggests that the lipid panel is not a side issue in the clinic.
The authors also compared echocardiographic outcomes after surgery between patients with Turner syndrome and their counterparts without it. The differences they found, however, did not survive correction for multiple comparisons, and the researchers themselves describe them as exploratory: they cannot support the claim that operated patients with Turner fare worse, only that the question deserves a study designed to answer it. The work is retrospective and single-centre, with just 43 surgical patients, which further limits the power of those comparisons.
The practical conclusion the authors draw is twofold: assess the lipid profile alongside the heart at every visit, and keep the karyotype in mind when estimating risk. For families, the message is that cardiovascular follow-up in Turner syndrome does not end with the ultrasound scan — it also includes lipid blood tests and close attention to each person’s particular chromosomal make-up.
Source: Metabolic features and postoperative outcomes in Turner syndrome with congenital heart disease. Huang Y, Luo S, Qi Y, Qin S, Yue C, Lu Q, Lash GE, Li L. Pediatric Research 2026. DOI: 10.1038/s41390-026-05450-1.
Read the paper: https://doi.org/10.1038/s41390-026-05450-1
