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Aortic arch anomaly - peculiar facies - intellectual disability is a rare, genetic, congenital developmental anomaly that is characterized by heart abnormalities, cranio-facial dysmorphia, and intellectual disabilities. No new cases have been reported since 1968.
[1] [2] This disorder is the cause of 20% of thoracic aortic aneurysms [3] [4] Some families affected by this condition have shown mild versions of some symptoms that are associated with Marfan syndrome and Loeys-Dietz syndrome , these signs include tall stature, joint hypermobility , cutaneous stretch marks , and either pectus excavatum or ...
Many other disorders can produce the same type of body characteristics as Marfan syndrome. [61] Genetic testing and evaluating other signs and symptoms can help to differentiate these. The following are some of the disorders that can manifest as "marfanoid": [citation needed] Congenital contractural arachnodactyly, also known as Beals–Hecht ...
Type B: The aortic arch is interrupted between the left common carotid artery and the left subclavian artery. This is the most common form of the condition, and is the classification most often associated with DiGeorge syndrome. [2] [5] Type C: The aortic arch is interrupted between the innominate artery and the left common carotid artery. This ...
Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least common type of aortic stenosis. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.
Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch, ascending or descending portions. FAD is thought to be passed down as an autosomal dominant disease and once inherited will result in dissection of the aorta, and dissecting aneurysm of the aorta, or rarely aortic or arterial dilation at a young age.
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]
Shone’s syndrome is a rare disorder that is often detected in very young children. The children tend to show symptoms like fatigue, nocturnal cough, and reduced cardiac output by the age of two years. They also develop wheezing due to the exudation of fluid into the lungs. [1]
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