A CASE REPORT OF MARFAN SYNDROME WITH ISCHEMIC STROKE WITH AORTIC DISSECTION

Dr. Umesh Rathava, Dr. Maulik Shah, Dr. Param Dhami, Dr. Keval Sanghvi, Dr. Sahaj Shah

Abstract


Marfan syndrome is an autosomal dominant disorder of connective tissue with musculo-skeletal, ocular
and cardiovascular manifestations. Mutations in the gene encoding brillin on chromosome 15
constitute the likely underlying cause in majority of cases. Clinical expression of genetic defect, however can be variable both
within and between families. In large and medium sized arteries, defects in brillin are associated with the disruption of elastic
bers, predisposing to aneurysm formation and arterial dissection. These vascular abnormalities can be a cause of cerebral or
spinal ischemia or hemorrhage. Indeed ischemic events involving brain or spinal cord are estimated to occur in 10 to 20% of
patients with Marfan syndrome.Aortic dissection is a major contributor to the premature mortality of Marfan syndrome.
Extension of dissecting aortic aneurysm into the brachiocephalic and common carotid arteries may lead to ischemic stroke.
Knowledge of the vascular complications of Marfan syndrome has come mainly from case reports involving small number of
patients with concomitant potential for selection bias. Henceforth, here we report a case of Marfan syndrome who presented
with ischemic stroke and aortic dissection.


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