In Turner syndrome, looking after the heart and the aorta is one of the reasons lifelong follow-up is recommended: a bicuspid aortic valve, coarctation and aortic dilatation are far more common than in the general population. Catching them before they cause symptoms means regular imaging tests, which are not always comfortable or available at every centre. A US team asked whether two far simpler examinations — an electrocardiogram and a skin check — could flag who is most likely to be carrying a hidden cardiovascular problem.
The study, published in American Journal of Medical Genetics Part A, examined the heart and the skin of 118 people with Turner syndrome (median age 33) who took part as volunteers at a national conference on the condition held in 2023. In the group, 39% had congenital heart disease and roughly a quarter had a thoracic aortic aneurysm. Thirty-five per cent showed electrocardiographic abnormalities classed as major, most often T-wave inversions and ST-segment depression, and 7% had a prolonged corrected QT interval.
The ECG findings did not stand alone: they were associated with a larger aortic diameter and were more frequent among those with congenital heart disease, with a trend towards more thoracic aortic aneurysms (odds ratio 2.8). The most striking figure appeared when the researchers looked at people with no known heart defect: 17% of them had abnormal ECGs and, within that subgroup, more than a quarter had a thoracic aortic aneurysm that had gone undetected until then. The only factor that independently predicted those electrical changes was a 45,X karyotype.
The skin offered a signal of its own. Acquired melanocytic naevi — the ordinary moles that appear over the years — were unusually numerous in this group, and their number rose step by step with the severity of combined congenital heart disease and aortic aneurysm (adjusted odds ratio 13.1 per level), although they were not linked to the QT interval. The authors’ hypothesis is that skin and heart share an embryonic origin: both structures derive in part from cranial neural crest cells, and that common origin would explain why the two are affected together.
The practical takeaway is not that an ECG or a mole count can replace echocardiography or magnetic resonance imaging. This is a cross-sectional study carried out with conference volunteers — which introduces a selection bias — and the authors themselves describe the results as preliminary, pending validation in larger cohorts. But it points to something potentially useful in the clinic: an electrocardiogram and a careful look at the skin are cheap, quick, radiation-free tests that could help decide who needs their aorta studied sooner or more often. For families, the immediate consequence is the familiar one: do not skip scheduled cardiology appointments, because many of these complications give no warning until they are already advanced.
Source: Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease. Elsaim S, Vernier B, Truong VTT, Patel RT, Brown M, Portillo MC, Rogge M, Rodriguez-Buritica D, Prakash SK. American Journal of Medical Genetics Part A 2026;200(10):2234-2240. DOI: 10.1002/ajmg.a.70200.
Publication record: https://doi.org/10.1002/ajmg.a.70200 · PubMed: PMID 42112755
