Cited by 316Vascular anomalies and interventionsCongenital Heart Disease StudiesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Major Vascular Anomalies in Turner Syndrome: Prevalence and Magnetic Resonance Angiographic Features

Ho, Vincent B., Bakalov, Vladimir K., Cooley, Margaret, Van, Phillip L., Hood, Maureen N., Burklow, Thomas R., Bondy, Carolyn A.·2004·Circulation

DOI 10.1161/01.cir.0000142290.35842.b0

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Abstract

BACKGROUND: Turner syndrome (TS) is associated with aortic coarctation and dissection; hence, echocardiographic evaluation of all patients is currently recommended. X-ray angiography in clinically symptomatic patients has suggested a range of other vascular anomalies, but the true prevalence of such lesions in TS is unknown. To better understand the prevalence and pathogenesis of cardiovascular defects in TS, we prospectively evaluated a group of asymptomatic adult volunteers with TS using magnetic resonance (MR) angiography. METHODS AND RESULTS: A total of 85 adults with TS and 27 normal female adult volunteers underwent gadolinium-enhanced 3D MR angiography. A high prevalence of aortic anomalies was seen in women with TS, including elongation of the transverse arch (49%), aortic coarctation (12%), and aberrant right subclavian artery (8%). Venous anomalies were also prominent, including persistent left superior vena cava (13%) and partial anomalous pulmonary venous return (13%). None of these anomalies were found in healthy female controls. The constellation of elongation of the transverse arch, aortic coarctation, and persistent left superior vena cava was significantly associated with women with TS. Neck webbing and increased thoracic anterior-to-posterior dimension diameters were strong predictors for arterial and venous anomalies. CONCLUSIONS: Thoracic vascular anomalies are common in TS, occurring in approximately 50% of a group not preselected for cardiovascular disease. The highly significant association between neck webbing, increased chest diameter, and these vascular anomalies suggests that in utero, centrally localized lymphatic obstruction may contribute to these cardiovascular deformities in TS. Improved recognition of these often-undetected vascular lesions may be important for identification of patients in need of closer cardiovascular monitoring.

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Authors: Ho, V. B., Bakalov, V. K., Cooley, M., Van, P. L., Hood, M. N., Burklow, T. R., & Bondy, C. A.
Affiliations: National Institutes of Health (US)
ORCID: Ho, Vincent B.
Hood, Maureen N.
Venue: Circulation
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2004-09-21
Volume: 110
Issue: 12
Pages: 1694-1700
ISSN: 0009-7322 (ISSN-L)
1524-4539
DOI: 10.1161/01.cir.0000142290.35842.b0
OpenAlex: W2105153540
Cited by: 316
References: 40
Citations by year: 2026: 2 · 2025: 7 · 2024: 13 · 2023: 11 · 2022: 15 · 2021: 14 · 2020: 12 · 2019: 15 · 2018: 26 · 2017: 14 · 2016: 14 · 2015: 22 · 2014: 16 · 2013: 21 · 2012: 16
FWCI: 13.27
Type: journal article
Language: en
Open access: closed
Locations: Circulation (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Surgery › Vascular anomalies and interventions
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Congenital Heart Disease Studies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Keywords: Turner syndrome, vascular anomalies, coarctation of the aorta, aberrant right subclavian artery, persistent left superior vena cava, partial anomalous pulmonary venous return, lymphatic obstruction, cardiovascular defects, prevalence, magnetic resonance angiography
MeSH terms: Adult, Anthropometry, Aortic Arch Syndromes, Aortic Coarctation, Blood Pressure, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Neck, Pulmonary Veins, Subclavian Artery, Thorax, Turner Syndrome, Vena Cava, Superior, Prevalence, Single-Blind Method, Cardiovascular Abnormalities, Imaging, Three-Dimensional

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Major Vascular Anomalies in Turner Syndrome: Prevalence and Magnetic Resonance Angiographic Features

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