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Explore overview, symptoms, causes, treatment, diagnosis, prevention, and FAQ articles for this condition.
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What is Marfan syndrome
Marfan syndrome is a genetic connective tissue disorder that affects the body’s ability to build and maintain strong, flexible structural support. The condition primarily involves the heart and blood vessels, skeleton, eyes, and other connective tissues . Its defining biological feature…
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Symptoms of Marfan syndrome
Marfan syndrome produces a characteristic pattern of symptoms involving the skeleton, eyes, blood vessels, and sometimes the lungs and skin. The most significant symptoms come from weakness in connective tissue, which is the structural framework that helps organs keep their shape…
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Causes of Marfan syndrome
Marfan syndrome is caused by a genetic change, most often a mutation in the FBN1 gene, that disrupts the body’s ability to build and maintain connective tissue. In practical terms, the condition develops because the tissues that give organs, blood vessels,…
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Diagnosis of Marfan syndrome
Marfan syndrome is usually identified through a combination of clinical examination, imaging studies, family history, and, in many cases, genetic testing. It is a connective tissue disorder caused by changes in the FBN1 gene, which provides instructions for making fibrillin-1, a…
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Treatment for Marfan syndrome
Marfan syndrome is treated with a combination of medications, procedures, and long-term monitoring aimed primarily at protecting the cardiovascular system, especially the aorta. The main treatments include beta-blockers, angiotensin receptor blockers such as losartan, surgical repair of aortic disease when needed,…
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Prevention of Marfan syndrome
Marfan syndrome cannot be prevented in the usual sense because it is primarily a genetic disorder caused by pathogenic variants in the FBN1 gene, which encodes fibrillin-1. This gene is involved in the formation and maintenance of connective tissue, especially in…
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FAQ about Marfan syndrome
Marfan syndrome is a genetic connective tissue disorder that can affect the heart, blood vessels, eyes, bones, and other parts of the body. This FAQ explains what Marfan syndrome is, why it happens, how it is diagnosed, what treatment usually involves,…