Fatal, hemorrhagic stroke despite thrombectomy after Tirone-David procedure in novel compound heterozygous Marfan syndrome

Marfan syndrome is a rare hereditary connective tissue disorder due to mutations in FBN-1. Marfan syndrome manifests in the heart with valve abnormalities and ectasia of the aorta requiring surgical replacement therapy. Myocardial infarction with embolic stroke, five weeks after replacement therapy by means of a Tirone-David procedure (aortic valve sparing replacement of an aneurysm of the ascending aorta by an aortic graft), has not been reported.

The patient is a 39yo female with Marfan syndrome due to a compound heterozygous mutation in FBN-1 (deletion of exon-5, point mutation c.467A > G). She underwent a Tirone-David procedure and mitral valve replacement therapy because of high grade mitral valve insufficiency, aortic valve insufficiency, and ectasia of the ascending aorta. Post surgery she temporarily required support by an ECMO device and implantation of an Impella pump because of transient pump failure. Five weeks after the procedure she experienced a myocardial infarction complicated by multiple cardio-embolic strokes. Though thrombectomy from the right middle cerebral artery was successful, she succumbed from intracerebral edema following multiple embolic strokes with secondary intracerebral bleeding.

surgical replacement therapy of the mitral valve and the ascending aorta with preservation of the aortic valve in Marfan syndrome can be complicated by myocardial infarction even 5 weeks after surgery. Myocardial infarction may be complicated by fatal cardio-embolic stroke with secondary intracerebral bleeding.