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Today, cardiovascular symptoms of Marfan syndrome are still the most significant issues in diagnosis and management of the disease, but adequate prophylactic monitoring and prophylactic therapy offers something approaching a normal lifespan, and more manifestations of the disease are being discovered as more patients live longer. [75]
The etiology of dural ectasia is unknown, but it has been suggested that is due to increased hydrostatic pressure, [8] general weakened connective tissue [9] or as a result of the pulsatile flow of cerebrospinal fluid on weakened spinal dura. [10] Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome ...
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome ...
Rheumatic fever (RF), Marfan's syndrome and the Ehlers–Danlos syndromes are other typical causes. [6] Mitral valve stenosis (MVS) can sometimes be a cause of mitral regurgitation (MR) in the sense that a stenotic valve (calcified and with restricted range of movement) allows backflow (regurgitation) if it is too stiff and misshapen to close ...
Marfan syndrome - inherited as an autosomal dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1. [3] Homocystinuria - condition of methionine metabolism brought on by a cystathionine β-synthase deficit that causes a build-up of homocysteine and its metabolites in the urine and blood. [4]
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
[24] [43] Marfan syndrome, Ehlers–Danlos syndrome, and autosomal dominant polycystic kidney disease are the three most common connective tissue disorders associated with sCSFLs. [24] Roughly 20% of patients with a sCSFL exhibit features of Marfan syndrome, including tall stature, hollowed chest ( pectus excavatum ), joint hypermobility and ...
They are differentiated from other meningeal and arachnoid cysts because they are innervated and diagnosis can in cases be demonstrated with subarachnoid communication. Tarlov perineural cysts have occasionally been observed in patients with Marfan syndrome, Ehlers–Danlos syndrome, and Loeys–Dietz syndrome. [5]