Marfan syndrome heart murmur

Genetic disorder involving connective tissue

Medical condition

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] They also typically have exceptionally flexible joints and abnormally curved spines.^[1] The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.^[1][8] The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected.^[1] The severity of the symptoms is variable.^[1]

MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue.^[1] It is an autosomal dominant disorder.^[1] In about 75% of cases, it is inherited from a parent with the condition, w