" /> Family History of Marfan Syndrome - CISMeF





Preferred Label : Family History of Marfan Syndrome;

NCIt related terms : Marfan syndrome;

NCIt definition : A history of a first-degree relative with Marfan syndrome.;

Alternative definition : ACC/AHA: A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. Diagnosis is made based on the 2010 Revised Ghent Nosology for Marfan syndrome;

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28/07/2025


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