Using the velocity of the blood through the valve, the pressure gradient across the valve can be calculated by the continuity equation or using the modified Bernoullis equation: Gradient = 4(velocity)² mmHg A normal aortic valve has a gradient of only a few mmHg. A decreased valvular area causes increased pressure gradient, and these parameters are used to classify and grade the aortic stenosis as mild, moderate or severe. The pressure gradient can be abnormally low in the presence of mitral stenosis, heart failure, co-existent aortic regurgitation and also ischaemic heart disease (disease related to the decreased blood supply and oxygen causing ischemia).Echocardiogram may also show left ventricular hypertrophy, thickened and immobile aortic valve, and dilated aortic root. However, it may appear deceptively normal in acute cases. Chest X-ray
A chest X-ray can also assist in the diagnosis and provide clues as to the severity of the disease, showing the degree of calcification of the valve, and in a chronic condition, an enlarged left ventricle and atrium. Computer tomography
The use of CT calcium scoring is gaining spread as a diagnostic tool to complement echo in the assessment of patients with aortic stenosis. Aortic valve calcium scoring by multidetector computed tomography (CT-AVC) is used to quantify the degree of calcification of the aortic valve. According to the 2021 ESC/EACTS Guidelines for the management of valvular heart disease the recommended thresholds indicating severe aortic stenosis are > 1200 AU in women and > 2000 AU in men. Management
Treatment is generally not necessary in people without symptoms.
Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. The disorder is different (but similar to) from other syndromic entities such as geleophysic dysplasia, Weill-Marchesani syndrome, and Myhre syndrome. Genetics
This condition has been associated with mutations in the Fibrillin 1 (FBN1) gene.Mutations in this gene have also been associated with stiff skin syndrome, Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome. References
External links
GeneReview/NIH/UW entry on Geleophysic Dysplasia