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MARFAN SYNDROME

MARFAN SYNDROME

It is an inherited disorder of the connective tissue, which is responsible for holding together the body tissues. It can produce a variable number of alterations that may affect the heart, blood vessels, lungs, bones and ligaments. In general, patients are very tall, with long limbs disproportionate with the torso.

Marfan syndrome is genetic and is due to an abnormality of the FBN1 gene, which determines the production of a protein called fibrillin. This gene resides on chromosome 15. There are a variety of mutations in this gene which can cause the syndrome and explain the large variability.

Genetics

The Marfan syndrome is inherited as an autosomal dominant trait and therefore each child with a parent with the gene has a 50% chance of inheriting it. However, up to 30% of cases have no family history and are called "sporadic" cases.

Fibrillin is a major component of connective tissue contributing to its strength and elasticity. Fibrillin is especially abundant in the aorta, in the supporting elements of the eye and bone. People with Marfan syndrome have low amounts of fibrillin or it is of poor quality.

It affects men and women of all racial and ethnic groups equally. The incidence is approximately 2 out of 10,000 people in all ethnic groups.

Cardiovascular Genetics Center
IDIBGI C/ Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2) 17290, Salt, Girona . Tel: 872 987087 · gencardio.diagnostics@gencardio.com