Bicuspid aortic stenosis epidemiology and demographics
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Associate Editors-In-Chief: Claudia P. Hochberg, M.D. [2]; Abdul-Rahman Arabi, M.D. [3]; Keri Shafer, M.D. [4]
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Epidemiology
The most common congenital abnormality of the heart is the bicuspid aortic valve. Approximately 1-2% of the population have bicuspid aortic valves, and the majority will cause no problems. It can be manifested as a murmur. In this condition, instead of three cusps, the aortic valve has two cusps which results from the fusing of one of the commissures.
Bicuspid aortic valve has been found to be an inheritable condition, with a demonstrated association with Notch 1.[1] Familial clustering as well as isolated valve defects have been documented. The incidence of bicuspid aortic valve can be as high as 10% in families affected with the valve problem. Other congential heart defects are associated with bicuspid aortic valve at various frequencies.
This condition is often undiagnosed until later in life when the person develops symptomatic aortic stenosis. Aortic stenosis occurs in this condition usually in patients in their 40s or 50s, an average of 10 years earlier than can occur in people with congenitally normal aortic valves. 30% of cases are diagnosed in adolescence.
The congenital bicuspid aortic valve may become calcified, which may lead to half the cases of surgically important pure aortic stenosis in adults, with varying degrees of severity of aortic stenosis and aortic regurgitation.
Congenital aortic stenosis accounts for 5% of congenital heart defects, is the most common congenital anomaly and is more common in men than women (3:1 to 5:1).
References
- ↑ Garg V, Muth AN, Ransom JF; et al. (2005). "Mutations in NOTCH1 cause aortic valve disease". Nature. 437 (7056): 270–4. doi:10.1038/nature03940. PMID 16025100.