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Bicuspid Aortic Valve | Connective Tissue Disease | Endocarditis

Connective Tissue Disease

Marfan's Syndrome

Marfan's syndrome is a connective tissue disorder that can affect the heart valves and the aorta. Marfan's syndrome is caused by mutations in the Fibrillin 1 gene. These mutations can lead to abnormalities of the skeleton, tall stature, and problems involving the aorta or heart. They include aortic valve insufficiency, mitral valve insufficiency (mitral valve prolapse) or atrial fibrillation. People with Marfan's syndrome are at risk for an enlarged aorta, which can lead to an aneurysm and life-threatening rupture. Early diagnosis and medical management can slow the development of aortic enlargement.

Inherited Aneurysm Syndromes

Aneuryms (outpouchings or bulges of the blood vessels) can develop as part of Marfan's syndrome or can be independent of Marfan's syndrome. Aneurysms can run in families. Early screening and treatment can be life-saving.

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