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Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [ 6 ] [ 7 ] [ 1 ] Those with the condition tend to be tall and thin, with long arms, legs , fingers, and toes . [ 1 ]
Once rupture occurs, the mortality rate is 50–80%. Most deaths in patients with Marfan syndrome are the result of aortic disease. [citation needed] Causes
For a normally healthy age group, the risk appears to be particularly magnified in competitive basketball, with sudden cardiac death rates as high as one per 3,000 annually for male basketball players in NCAA Division I. [19] This is still far below the rate for the general population, estimated as one per 1,300–1,600 and dominated by the ...
The determination of surgical intervention is determined on a per-case basis. The diameter of the aneurysm, its rate of growth, the presence or absence of Marfan syndrome, Ehlers–Danlos syndromes or similar connective tissue disorders, and other co-morbidities are all important factors in the overall treatment.
2200 14118 Ensembl ENSG00000166147 ENSMUSG00000027204 UniProt P35555 Q61554 RefSeq (mRNA) NM_000138 NM_007993 RefSeq (protein) NP_000129 NP_032019 Location (UCSC) Chr 15: 48.41 – 48.65 Mb Chr 2: 125.14 – 125.35 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular ...
[13] [20] Marfan Syndrome is found in 5–9% of individuals who had an aortic dissection. In this subset, the incidence in young individuals is increased. Individuals with Marfan syndrome tend to have aneurysms of the aorta and are more prone to proximal dissections of the aorta. [22]
Human infectious diseases may be characterized by their case fatality rate (CFR), the proportion of people diagnosed with a disease who die from it (cf. mortality rate).It should not be confused with the infection fatality rate (IFR), the estimated proportion of people infected by a disease-causing agent, including asymptomatic and undiagnosed infections, who die from the disease.
Ehlers-Danlos syndrome, Marfan syndrome, polycystic kidney disease, ... not just an isolated click, have an increased mortality rate of 15-20%. [62]