Work

Electrocardiographic and Skin Manifestations of T urner Syndrome: Association With Cardiovascular Disease

Year: 2026

Type: article

Abstract: Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023 national TS conference. Electrocardiographic abnormalities were classified according to the Minnesota Codes. Aortic diameters and cardiac anatomy were assessed using a standardized echocardiographic protocol. The primary outcome was the association between ECG abnormalities and thoracic aortic aneurysms (TAA) or CHD. The secondary outcome was the association between AMN counts and CHD, TAA, or the corrected QT interval (QTc). Among 118 participants (median age 33 years; CHD 39%; TAA ~25%), 35% had major ECG abnormalities, most commonly T-wave inversions and ST depressions; QTc prolongation occurred in 7%. Major ECG abnormalities were associated with larger aortic diameter and were more frequent in CHD, with a trend toward increased TAA (OR 2.8). Notably, 17% without known CHD had ECG abnormalities, and > 25% of these had previously unrecognized TAA. Only 45,X karyotype independently predicted ECG abnormalities. AMN burden was markedly elevated and increased stepwise with combined CHD + TAA (adjusted OR per level 13.1) but was not associated with QTc. ECG abnormalities and AMN burden track with cardiovascular disease severity in TS and may identify individuals with unrecognized aortopathy. These preliminary findings support integrated multimodal screening for CHD in TS, pending validation in larger cohorts.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.70200