Marfan syndrome
Pronunciation: MAR-fan
Connective tissue disorder affecting cardiovascular, skeletal, and ocular systems with increased risk of aortic complications.
Full Definition
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene encoding fibrillin-1. From a vascular perspective, the most significant manifestations involve the aorta, with progressive dilatation of the aortic root and ascending aorta that can lead to life-threatening complications including aortic regurgitation, dissection, or rupture. The condition affects multiple organ systems including skeletal (tall stature, arachnodactyly), ocular (lens dislocation), and cardiovascular systems. Regular cardiovascular surveillance with echocardiography and activity restrictions are essential components of management.
Usage
Usage note: Named after Antoine Marfan; capitalize when used as eponym. Focus on cardiovascular manifestations in vascular medicine contexts.
In Context
- "The patient's aortic root dilatation was monitored annually due to known Marfan syndrome." — Surveillance plan
- "Genetic testing confirmed Marfan syndrome in the young athlete with aortic enlargement." — Genetic counseling report