Marfan's syndrome

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Marfan's syndrome

[′mär‚fanz ‚sin‚drōm]
(medicine)
A hereditary connective-tissue disorder transmitted as an autosomal dominant; manifested by skeletal and ocular changes and by congenital heart disease.
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The prolapse of atrioventricular valves in the patients with Marfan Syndrome is thought to develop from fibromyxomateous changes in leaflets and chordae, abnormal annular distensibility, and possibly valve enlargement and calcification (Attias et al 2009; Malev et al 2014; Rybczynski et al 2011).
Location on chromosome 15 on the gene defect causing Marfan syndrome. N Engl J Med 1990;323(14):935-9.
De Paepe, "Ehlers-Danlos syndromes and Marfan syndrome," Best Practice & Research.
Godfrey, "The molecular genetics of Marfan syndrome and related microfibrillopathies," Journal of Medical Genetics, vol.
Coronary artery anomalies, although present in other syndromic pathologies, are not described in Marfan syndrome. As discussed above, its importance is related to the risk of sudden death and to events related to myocardial ischemia when the anomalous coronary pathway goes between the aorta and the main pulmonary artery, mainly if it is intramural.
Pyeritz, "Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders," Human Molecular Genetics, vol.
Faed et al., "Ascertainment and severity of Marfan syndrome in a Scottish population," Journal of Medical Genetics, vol.
Since its introduction in 19681, CVG for replacement of the aortic valve and ascending aorta has led to increased life expectancy for patients with Marfan syndrome (MFS).
Furthermore, she had undergone some genetic tests performed on the suspicion of Marfan syndrome. The family history revealed that none of the other members had similar problems, and she also had a twin brother who has no medical issues.
A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype
Marfan syndrome is a connective tissue disorder first described by Antoine Marfan in 1896 and is thought to affect 2-3 in 10,000 people [1].