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

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 Ϸ50% 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.

Editor's Choice – Management of Descending Thoracic Aorta Diseases

“…261 Clinical manifestations include upper limb hypertension, weak and delayed femoral pulses, and lower limb claudication. A thoracic bruit may be present.…”

Turner syndrome in childhood and adolescence

“…With the aid of gadolinium contrast especially, major venous anomalies, including partial anomalous pulmonary venous connection, are easily detected. Even without contrast, the ability to see the entire thoracic aorta (i.e., the ascending directly compared with the descending) reveals dilation of the ascending aorta that may not be detected on ultrasound, and many anomalies of the great vessels, including the right-sided aortic arch and anomalous origins of the subclavian and carotid arteries, are very common in TS compared with controls [8]. Elongation of the transverse aortic arch and kinking of the lesser curvature are associated with dissection and are common in TS but not visible on transthoracic echocardiography [8].…”

“…Even without contrast, the ability to see the entire thoracic aorta (i.e., the ascending directly compared with the descending) reveals dilation of the ascending aorta that may not be detected on ultrasound, and many anomalies of the great vessels, including the right-sided aortic arch and anomalous origins of the subclavian and carotid arteries, are very common in TS compared with controls [8]. Elongation of the transverse aortic arch and kinking of the lesser curvature are associated with dissection and are common in TS but not visible on transthoracic echocardiography [8]. Studies in diverse aortic aneurysm syndromes have found that the mere presence of a cardiovascular anomaly is coextensive with the risk for aortic dissection/rupture (i.e., a bicuspid aortic valve predicts aortic dissection, not because of secondary hemodynamic effects of abnormal flow through the valve, but because a shared developmental defect impairs correct development of valve and aorta) [9].…”

Cardiovascular Disorders of Turner's Syndrome: A Review

“…Hypoplastic left heart syndrome suggests that this anomaly can be another expression of the 45,X karyotype. Moreover, Ho et al [26] described the prevalence of vascular abnormalities in TS including elongation of the transverse arch (49%), aortic coarctation (12%), aberrant right subclavian artery (8%), persistent left superior vena cava (13%) and partial anomalous pulmonary venous return (13%). They suggested that in utero, centrally localized lymphatic obstruction may contribute to these cardiovascular deformities in TS.…”