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(Circulation. 2004;110:1694-1700.)
© 2004 American Heart Association, Inc.

Vascular Medicine

Major Vascular Anomalies in Turner Syndrome

Prevalence and Magnetic Resonance Angiographic Features

Vincent B. Ho, MD; Vladimir K. Bakalov, MD; Margaret Cooley, BA; Phillip L. Van, MS; Maureen N. Hood, MS, RN; Thomas R. Burklow, MD; Carolyn A. Bondy, MD

From the Departments of Radiology and Radiological Sciences (V.B.H., M.N.H.) and Pediatrics (T.R.B.), Uniformed Services University of the Health Sciences, Bethesda, Md; Diagnostic Radiology Department (V.B.H., M.N.H.), Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, Md; and Developmental Endocrinology Branch (V.K.B., M.C., P.L.V., C.A.B.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md.

Correspondence to Vincent B. Ho, MD, Department of Radiology and Radiological Sciences, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD 20814. E-mail vho{at}usuhs.mil or vho@nih.gov

Received January 23, 2004; de novo received April 19, 2004; accepted June 22, 2004.

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 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.

Key Words: Turner syndrome • angiography • magnetic resonance imaging • aorta • veins

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