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

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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  • Vascular anomalies, including partial anomalous pulmonary venous return, left superior vena cava, elongated transverse arch, and dilation of the brachiocephalic arteries, often remain undetected unless advanced imaging modalities are used.

    “Vascular anomalies, including partial anomalous pulmonary venous return, left superior vena cava, elongated transverse arch, and dilation of the brachiocephalic arteries, often remain undetected unless advanced imaging modalities are used.388,395”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [395]

  • CMR is not constrained by anatomic factors and is thus more sensitive for extra-cardiac lesions such as partial anomalous pulmonary venous return.

    “CMR is not constrained by anatomic factors and is thus more sensitive for extra-cardiac lesions such as partial anomalous pulmonary venous return.388,395,420”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [395]

  • CMR is superior to TTE for the diagnosis of BAV, aortic dilation and aortic arch anomalies while also providing important data on shunt fractions and ventricular volumes.

    “CMR is also superior to TTE for the diagnosis of BAV, aortic dilation and aortic arch anomalies395,429-433 while also providing important data on shunt fractions and ventricular volumes that may inform clinical management.388”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [395]

  • Venous anomalies (anomalous pulmonary veins, left superior vena cava) are more common in TS.

    “While venous anomalies (anomalous pulmonary veins, left superior vena cava) are more common in TS, the question remains if malformations of the inferior vena cava or pelvic veins increase the risk for deep venous thrombosis of the lower extremities.395,475”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [395]

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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
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 › Epidemiology › 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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