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CLINICAL RESEARCH: CONGENITAL HEART DISEASE

Aortic Valve Disease in Turner Syndrome

Vandana Sachdev, MD^_*, Lea Ann Matura, RNP, PhD, Stanislav Sidenko, BA^_*, Vincent B. Ho, MD, MBA, Andrew E. Arai, MD^_*, Douglas R. Rosing, MD^_* and Carolyn A. Bondy, MD^,_*

^_* National Heart, Lung and Blood Institute, Bethesda, Maryland
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland
Departments of Radiology and Radiological Sciences, Uniformed Services University of the Health Sciences, Bethesda, Maryland.

Manuscript received October 26, 2007; revised manuscript received January 16, 2008, accepted February 5, 2008.

^_* Reprint requests and correspondence: Dr. Carolyn Bondy, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, CRC 1-3330, 10 Center Drive, Bethesda, Maryland 20892. (Email: bondyc{at}mail.nih.gov).

Objectives: Our goal was to determine the prevalence and characteristics of aortic valve disease in girls and women with monosomy for the X chromosome, or Turner syndrome (TS).

Background: Complications from congenital aortic valve disease are a major source of premature mortality in TS, but accurate data on the prevalence of aortic valve abnormalities and their association with aortic root dilation are not available.

Methods: This prospective study characterized the aortic valve and proximal aorta in 253 individuals with TS age 7 to 67 years using transthoracic echocardiography as our primary screening tool, supplemented with magnetic resonance imaging.

Results: Transthoracic echocardiography revealed a normal tricuspid aortic valve (TAV) in 172 and a bicuspid aortic valve (BAV) in 66 subjects. Transthoracic echocardiography could not visualize the aortic valve in 15 of 253 or 6%. Magnetic resonance imaging diagnosed 12 of 15 of these cases (8 BAV and 4 TAV), so that only 3 of 253 (1.2%) could not be visualized by either modality. The aortic valve was bicuspid in 74 of 250 (30%) adequately imaged subjects. The prevalence was equal in pediatric (<18 years, n = 89) and adult populations. Over 95% of abnormal aortic valves in TS resulted from fusion of the right and left coronary leaflets. Ascending aortic diameters were significantly greater at the annulus, sinuses, sinotubular junction, and ascending aorta in the BAV group, with aortic root dilation in 25% of subjects with BAV versus 5% of those with TAV.

Conclusions: Girls and women with TS need focused screening of the aortic valve and root to identify the many asymptomatic individuals with abnormal valvular structure and/or aortic root dilation.

Abbreviations and Acronyms   BAV = bicuspid aortic valve   BSA = body surface area   MRI = magnetic resonance imaging   NIH = National Institutes of Health   TAV = tricuspid aortic valve   TS = Turner syndrome