Marfan's syndrome


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Marfan's syndrome

[märfäNz′]
Etymology: Bernard-Jean A. Marfan, French pediatrician, 1858-1942
a hereditary condition that affects the musculoskeletal system and is often associated with abnormalities of the cardiovascular system and the eyes. Inherited as an autosomal-dominant trait, Marfan's syndrome affects men and women equally. Its major musculoskeletal effects include muscular underdevelopment, ligamentous laxity, joint hypermobility, and bone elongation. The extremities of individuals with Marfan's syndrome are very long and spiderlike, with arachnodactyly. Most adult patients are over 6 feet (1.8 meters) tall and have asymmetric skulls. Funnel chest is common, and a lateral curvature of the spine may develop and increase during years of rapid vertebral growth, with kyphoscoliosis developing to varying degrees. The severe ligamental laxity and joint hypermobility associated with Marfan's syndrome may be seen by radiographic examination and often result in pes valgus and back knee. Pathological alterations of the cardiovascular system appear to produce fragmentation of the elastic fibers in the media of the aorta, which may lead to aneurysm. Ocular changes include a variety of disorders, including dislocation of the lens. No specific treatment is available, and symptomatic management of the associated problems is the usual alternative. Resulting deformities, such as kyphoscoliosis, may be treated with orthoses or surgery, as indicated.
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Marfan's syndrome

Marfan's syndrome

A rare AUTOSOMAL DOMINANT genetic disorder involving weakness of the extracellular matrix protein fibrillin 1. The disease is caused by a gene mutation in the FIBRILLIN gene on chromosome 15. Many features of the disease are caused by altered regulation of transforming growth factor beta (TGFB). People with Marfan's syndrome are tall with long extremities and strikingly spider-like fingers (ARACHNODACTYLY). Their joints are unusually mobile and dislocate easily and the internal lenses of the eyes commonly become displaced. The main artery of the body (the AORTA) is abnormally floppy and prone to aneurysm, and heart disease commonly occurs. (Antonin Bernard Jean Marfan, 1858–1942, French physician).

Marfan's syndrome

congenital defect in calves comparable to an inherited human defect; enlargement of the aortic root associated with a loud systolic murmur on the left side, long, thin limbs, joint laxity, lenticular displacement and opacity.

Patient discussion about Marfan's syndrome

Q. A friend of mine is suffering from Marfan's syndrome. Should she do any test to check for an aneurysm? My friend is 26 years old and suffers from Marfan's syndrome for all her life. She was told she has a greater risk factor for having an aneurysm. Does she needs any screening for this condition?

A. It is very important to talk with your physician about this. My wife has marfan and we were not aware about the risk of pregnancy in this situation, and she developed an aneurysm. The regular screening is not enough and before life changing decisions you should do another screening.

Q. My neighbor's kid had a lens dislocation due to Marfan's disease. Is this a contagious thing? My neighbor's have a sweet 8 year old boy. he had a lens dislocation due to a connective tissue disease named Marfan (I think that the name). It sounds like a very serious condition. My boy is playing with this kid several hour a week. should I take him to the GP to see that his is not infected with this marfan thing?

A. As in love and war so is in medicine the is no always nor never. It is probably the marfan that caused your neighbor kid the lens dislocation but you can never know for sure.
If you want there is nothing wrong in taking your boy for an annual check of an ophthalmologist.

More discussions about Marfan's syndrome
References in periodicals archive ?
Reports exist where multiple surgeries were required for reposition of IOL after CTR insertion in a child with Marfan's syndrome bilaterally.
Approximately 5% of all cases of intracranial aneurysm are associated with heritable connective tissue disorders, the most important being Ehlers-Danlos syndrome type IV, Marfan's syndrome, neurofibromatosis type 1, and polycystic kidney disease.
Planning will provide the patient and family with an opportunity to prepare for any limitations in daily activities that Marfan's syndrome causes.
Marfan's Syndrome is caused by an inherited abnormality of some of the body's tissues and affects around 1 in 5,000 people.
At present, physicians can detect Marfan's syndrome only in people with the most extreme form of the disease.
Successful surgical treatment for acute aortic dissection in pregnancy with Marfan's syndrome.
In addition, an appropriate physical examination includes attention to the general body habitus that may suggest a syndrome associated with cardiovascular disease such as Marfan's syndrome.
They also include tips on such conditions as diabetes and Marfan's syndrome.
Talented Eilidh Reid-Foster was watching TV with her mum and sister when the little-known Marfan's Syndrome claimed her life on Sunday night.
Although Marfan's syndrome is a classic etiologic factor in acute aortic dissection, today patients with acute aortic dissection are far more likely to have a history of prior heart surgery than of Marfan's.