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Aortic valve disease in Turner syndrome
Vandana Sachdev1, Lea Ann Matura, Stanislav Sidenko
1National Heart, Lung and Blood Institute, Bethesda, Maryland 20892, USA.
Journal of the American College of Cardiology
|May 10, 2008
Summary
A significant number of girls and women with Turner syndrome (TS) have bicuspid aortic valves (BAV) and aortic root dilation, necessitating proactive screening for this congenital aortic valve disease.
Area of Science:
- Cardiology
- Genetics
- Pediatric Health
Background:
- Congenital aortic valve disease is a significant cause of early mortality in Turner syndrome (TS).
- Limited data exists on the prevalence of aortic valve abnormalities and their link to aortic root dilation in TS patients.
Purpose of the Study:
- To determine the prevalence and characteristics of aortic valve disease in individuals with Turner syndrome (TS).
- To assess the association between aortic valve abnormalities and aortic root dilation in TS.
Main Methods:
- Prospective study of 253 individuals with TS (ages 7-67).
- Utilized transthoracic echocardiography as the primary screening tool.
- Supplemented imaging with magnetic resonance imaging for comprehensive aortic assessment.
Main Results:
- Bicuspid aortic valve (BAV) found in 30% of adequately imaged TS subjects, with equal prevalence in pediatric and adult groups.
- Over 95% of abnormal valves resulted from right and left coronary leaflet fusion.
- Aortic root dilation was more common in subjects with BAV (25%) compared to tricuspid aortic valve (TAV) (5%).
Conclusions:
- Girls and women with TS require targeted screening for aortic valve and root abnormalities.
- Early identification of asymptomatic individuals with valvular structure or aortic root dilation is crucial for management.
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