Marfan syndrome
Pronunciation: MAR-fan
A genetic connective tissue disorder that commonly affects the cardiovascular system, particularly the aorta.
Full Definition
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene encoding fibrillin-1, affecting approximately 1 in 5,000 individuals. The cardiovascular manifestations are the most life-threatening, including aortic root dilatation, aortic regurgitation, mitral valve prolapse, and risk of aortic dissection. Other features include tall stature, arachnodactyly, lens dislocation, and pectus deformity. The diagnosis is based on the Ghent criteria, which incorporate family history, genetic testing, and specific clinical features across multiple organ systems. Regular cardiac surveillance with echocardiography or MRI is essential, as prophylactic aortic root replacement may be indicated when the aortic diameter reaches specific thresholds.
Usage
Usage note: Named after Antoine Marfan; requires genetic confirmation for definitive diagnosis in many cases.
In Context
- "The patient's family history of Marfan syndrome prompted genetic counseling and cardiac screening." — Clinical assessment
- "Annual echocardiograms are recommended for Marfan patients to monitor aortic root dimensions." — Follow-up protocol