Presentation
Dyspnea on moderate exertion in known hypertensive patient with Marfan syndrome (tall stature and long arm span).
Patient Data
Dilated aortic root and ascending aorta (5cm) with a dissecting, free-moving intimal flap (Stanford type A) separating the true and false lumen. Moderate aortic regurgitation, aortic insufficiency pressure half time; 320 ms (not shown). Reduced systolic function, left ventricular ejection fraction (LVEF); 40%.
Dissecting aortic aneurysm of the ascending aorta , Stanford type A. Small peri-aortic hematoma.
Case Discussion
Marfan syndrome is an autosomal dominant disorder that affects the connective tissue that holds together the body's cells, tissues and organs caused most frequently by mutations in the fibrillin-1 gene (FBN1) on chromosome 15, which codes for the connective tissue protein fibrillin and enables the skin ligaments and blood vessels to stretch. Abnormalities in this protein cause multiple clinical problems in the musculoskeletal, cardiovascular and ocular systems.
The most common cardiovascular involvement is an aortic aneurysm and aortic dissection/rupture which is the most life-threatening aspect of the syndrome. Other cardiovascular findings include aortic regurgitation, mitral valve prolapse, mitral regurgitation, tricuspid valve prolapse, tricuspid regurgitation and pulmonary artery dilatation.
The patient had urgent surgery and a Bentall procedure was performed, which involved the replacement of the aortic valve, aortic root and ascending aorta with a composite graft.
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