Definitions for marfan syndrome
ˈmɑr fæn, mɑrˈfænmar·fan syn·drome

WiktionaryRate this definition:0.0 / 0 votes

1. Marfan syndromenoun

   A genetic disorder of the connective tissue that causes defects in the heart valves and aorta.

2. Etymology: After Antoine Marfan, French pediatrician who first described the condition in 1896.

WikipediaRate this definition:0.0 / 0 votes

1. Marfan syndrome

   Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable.MFS is caused by a mutation in FBN1, one of the genes that makes fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria.There is no known cure for MFS. Many of those with the disorder have a normal life expectancy with proper treatment. Management often includes the use of beta blockers such as propranolol or atenolol or, if they are not tolerated, calcium channel blockers or ACE inhibitors. Surgery may be required to repair the aorta or replace a heart valve. Avoiding strenuous exercise is recommended for those with the condition.About 1 in 5,000 to 1 in 10,000 people have MFS. Rates of the condition are similar in different regions of the world. It is named after French pediatrician Antoine Marfan, who first described it in 1896.

WikidataRate this definition:0.0 / 0 votes

1. Marfan syndrome

   Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. The syndrome is inherited as a dominant trait, carried by the gene FBN1, which encodes the connective protein fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan syndrome. Marfan syndrome has a range of expressions, from mild to severe. The most serious complications are defects of the heart valves and aorta. It may also affect the lungs, the eyes, the dural sac surrounding the spinal cord, the skeleton and the hard palate. In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta. TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix. Researchers now believe, secondary to mutated fibrillin, excessive TGF-β at the lungs, heart valves, and aorta weakens the tissues and causes the features of Marfan syndrome. Since angiotensin II receptor antagonists also reduce TGF-β, ARBs have been tested in a small sample of young, severely affected Marfan syndrome patients. In some patients, the growth of the aorta was indeed reduced.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Marfan Syndrome

   An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.

How to pronounce marfan syndrome?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

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   Tessa

   South African

How to say marfan syndrome in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of marfan syndrome in Chaldean Numerology is: 7

2. Pythagorean Numerology

   The numerical value of marfan syndrome in Pythagorean Numerology is: 4

References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Marfan_Syndrome
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Marfan_Syndrome
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=marfan syndrome