Major vascular anomalies in turner syndrome: Prevalence and magnetic resonance angiographic features

• Published in: Circulation (New York, N.Y.) Vol. 110; no. 12; pp. 1694 - 1700
• Main Authors: HO, Vincent B, BAKALOV, Vladimir K, COOLEY, Margaret, VAN, Phillip L, HOOD, Maureen N, BURKLOW, Thomas R, BONDY, Carolyn A
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 21-09-2004
• Subjects: Adult; Anthropometry; Aortic Arch Syndromes - diagnosis; Aortic Arch Syndromes - epidemiology; Aortic Arch Syndromes - genetics; Aortic Coarctation - diagnosis; Aortic Coarctation - epidemiology; Aortic Coarctation - genetics; Atherosclerosis (general aspects, experimental research); Biological and medical sciences; Blood and lymphatic vessels; Blood Pressure; Cardiology. Vascular system; Cardiovascular Abnormalities - diagnosis; Cardiovascular Abnormalities - epidemiology; Cardiovascular Abnormalities - genetics; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; Female; Humans; Imaging, Three-Dimensional; Injuries of the limb. Injuries of the spine; Magnetic Resonance Imaging; Medical sciences; Middle Aged; Neck - abnormalities; Prevalence; Pulmonary Veins - abnormalities; Single-Blind Method; Subclavian Artery - abnormalities; Thorax - pathology; Traumas. Diseases due to physical agents; Turner Syndrome - epidemiology; Turner Syndrome - pathology; Vena Cava, Superior - abnormalities; Chromosomal aberration; Dysgenesia; magnetic resonance imaging; Prevalence; Angiography; Magnetic resonance; Genital system; Cardiovascular disease; Sexual differentiation disorder; Turner syndrome; Nuclear magnetic resonance imaging; Artery; Female genital diseases; veins; Malformation; Gonad; Blood vessel; Aorta; Circulatory system
• ISSN: 0009-7322; 1524-4539
• DOI: 10.1161/01.CIR.0000142290.35842.B0

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.
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.
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.