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As people with Marfan syndrome live longer, other vascular repairs are becoming more common, e.g., repairs of descending thoracic aortic aneurysms and aneurysms of vessels other than the aorta. [citation needed] The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening.
Aortic regurgitation (AR), also known as aortic insufficiency (AI), is the leaking of the aortic valve of the heart that causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
There are a number of causes, [3] Aneurysms in patients younger than 40 usually involve the ascending aorta due to a weakening of the aortic wall associated with connective tissue disorders like the Marfan and Ehler-Danlos syndromes or congenital bicuspid aortic valve. Younger patients may develop aortic aneurysms of the thoracoabdominal aorta ...
Aortic sinus aneurysms may occur in isolation, or may be seen in association with other diseases of the aorta including Marfan syndrome, Loeys-Dietz syndrome, and bicuspid aortic valve. They can be diagnosed using an echocardiogram or cardiac magnetic resonance imaging (MRI) scan. Treatment includes blood pressure control but surgical repair ...
Marfan syndrome with or without aortic regurgitation [ 42 ] In individuals who require an artificial heart valve , consideration must be made for deterioration of the valve over time (for bioprosthetic valves) versus the risks of blood clotting in pregnancy with mechanical valves with the resultant need of drugs in pregnancy in the form of ...
A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome. [3] Congenital heart defects are divided into two main groups: cyanotic heart defects and non-cyanotic heart defects, depending on whether the child has the potential to turn bluish in color. [3]
Aortic regurgitation, on the other hand, has many causes: degeneration of the cusps, endocarditis, bicuspid aortic valve, aortic root dilatation, trauma, connective tissue disorders such as Marfan syndrome or Ehlers-Danlos lead to imperfect closure of the valve during diastole, hence the blood is returning from the aorta towards the left ...
The syndromic variant may occur with greater frequency in individuals with Ehlers-Danlos syndrome, Marfan syndrome, [24] Loeys–Dietz syndrome, [23] Williams–Beuren syndrome [25] [23] or polycystic kidney disease. [26] Other risk factors include Graves' disease [27] and chest wall deformities such as pectus excavatum. [28]