Connective Tissue Disease

Medical management for inherited cardiovascular diseases is based on a thorough and accurate diagnosis of the condition. The University of Chicago Cardiovascular Genetics Clinic addresses the full spectrum of inherited heart and vascular diseases, as well as related neuromuscular diseases.

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.

Visit the University of Chicago Medical Center's Cardiovascular Genetics Clinic for more information regarding Connective Tissiue Disorders and other geneticaly related conditions.

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