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

Volume : VIII, Issue : XII, December - 2019

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 fiillin 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 fiillin are associated with the disruption of elastic fibers, predisposing to aneurysm formation and arterial dissection. These vascular abnormalities can be a cause of cereal or spinal ischemia or hemorrhage. Indeed ischemic events involving ain 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 achiocephalic 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.