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Bicuspid aortic valves are the most common cardiac valvular anomaly, occurring in 1–2% of the general population. It is twice as common in males as in females. [23] Bicuspid aortic valve is a heritable condition, with a demonstrated association with mutations in the NOTCH1 gene. [24] Its heritability is as high as 89%. [25]
Heyde's syndrome; A stenotic aortic valve: Specialty: Cardiology, general surgery, Hematology: Symptoms: Aortic valve stenosis symptoms: Chest pain (angina) or tightness Shortness of breath, especially during exertion or when lying down Fatigue or weakness Irregular heartbeat or heart palpitations Dizziness or fainting episodes Gastrointestinal bleeding symptoms: Occult (hidden) or overt ...
Causes include being born with a bicuspid aortic valve, and rheumatic fever; a normal valve may also harden over the decades due to calcification. [2] [1] A bicuspid aortic valve affects about one to two percent of the population. [1] As of 2014 rheumatic heart disease mostly occurs in the developing world. [1]
Aortic stenosis due to calcification of tricuspid aortic valve with age [16] comprises >50% of the disease. Aortic stenosis due to calcification of a bicuspid aortic valve [16] comprises about 30-40% [15] of the disease. Hypertension, diabetes mellitus, hyperlipoproteinemia and uremia may speed up the process of valvular calcification. [15]
More than 50% of patients with aortic valve stenosis have a congenital heart abnormality called a bicuspid aortic valve. The aortic valve is normally three leaflets but when it is bicuspid it is made of two. [6] This increases the risk for aortic stenosis due to increased stress on the leaflets, calcium deposition, turbulent blood flow, and ...
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. [3] [4] [5] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta.
Quadricuspid aortic valves are very rare cardiac valvular anomalies with a prevalence of 0.013% to 0.043% of cardiac cases [4] and a prevalence of 1 in 6000 patients that undertake aortic valve surgery. [5] There is a slight male predominance in all of the cases, and the mean age is 50.7. [5]
In 10% of cases, no mutation is found in either gene. For another member of the gene family, mutations in the Notch1 gene are associated with bicuspid aortic valve, a valve with two leaflets instead of three. Notch1 is also associated with calcification of the aortic valve, the third most common cause of heart disease in adults. [29] [30]
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