Marfan Syndrome is a genetic condition that affects connective tissue. It is mainly an inherited condition but it sometimes appears by chance in someone with no family history.
Connective tissue is found between other tissues in the body, such as skin, ligaments, blood vessels and internal organs, and they support and protect the body.
Marfan Syndrome is caused by a gene mutation that causes an increase in a protein called fibrillin, which in turn causes connective tissue problems, such as parts of the body being able to stretch abnormally.
Some patients with Marfan Syndrome have obvious features, such as being very tall and thin with long limbs, a curved spine, flexible joints, flat feet and stretch marks that are not connected to weight gain or loss.
Other symptoms include an enlarged aorta and aortic dissection, sudden lung collapse and eye problems including detached retina and early glaucoma or cataracts.
Various tests including an ECG, CT (computerised tomography) and MRI (magnetic resonance imaging) scans are used to diagnose Marfan Syndrome. Genetic testing can also be carried out.
There is no cure for Marfan Syndrome, but medical professionals can offer help to manage symptoms.
Very occasional SCAD patients have been diagnosed with Marfan Syndrome but it is unknown what the link is.
FAQs
Connective tissue is found between other tissues in the body, such as skin, ligaments, blood vessels and internal organs, and they support and protect the body.
Various tests including an ECG, CT (computerised tomography) and MRI (magnetic resonance imaging) scans are used to diagnose Marfan Syndrome. Genetic testing can also be carried out.
Very occasional SCAD patients have been diagnosed with Marfan Syndrome but it is unknown what the link is.
There is no cure for Marfan Syndrome, but medical professionals can offer help to manage symptoms.
Associated Conditions...
Fibromuscular Dysplasia
Information about this uncommon condition that is found quite frequently in SCAD patients
Ehlers-Danlos Syndromes
Information about this connective tissue disorder a small number of SCAD patients also have
Marfan Syndrome
Information about this condition that a very small number of SCAD patients have
Loeys Dietz Syndrome
Information about this genetic condition that has a link with SCAD
Heart Failure
Explanation of symptoms, treatment and living with heart failure, which some patients develop after their SCAD