Aortic valve disease in Turner syndrome.
OBJECTIVE
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.
Sachdev
Vandana
V
National Heart, Lung and Blood Institute, Bethesda, Maryland 20892, USA.
Matura
Lea Ann
LA
Sidenko
Stanislav
S
Ho
Vincent B
VB
Arai
Andrew E
AE
Rosing
Douglas R
DR
Bondy
Carolyn A
CA
D000293:Adolescent; D000328:Adult; D000368:Aged; D001021:Aortic Valve / Q000473:pathology*; D001022:Aortic Valve Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D001024:Aortic Valve Stenosis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D001830:Body Surface Area; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D010641:Phenotype; D015995:Prevalence; D011446:Prospective Studies; D014424:Turner Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000503:physiopathology; D014463:Ultrasonography