Balkan Journal of Medical Genetics

EARLY ONSET MARFAN SYNDROME: ATYPICAL CLINICAL PRESENTATION OF TWO CASES
Ozyurt A, Baykan A, Argun M, Pamukcu O, Halis H, Korkut S, Yuksel Z, Gunes T, Narin N
*Corresponding Author: Abdullah Ozyurt, M.D., Division of Pediatric Cardiology, Erciyes University Faculty of Medicine, Kayseri, Turkey, 38039. Tel: +903522076666, Ext. 25036. Fax: +903524375825. E-mail: duruozyurt@yahoo.com.tr
page: 71

INTRODUCTION

Marfan syndrome (MFS) is an autosomal dominant disorder characterized by elastic tissue involvement: typically skeletal, cardiovascular, pulmonary, skin and ocular malformations occur.The disease is caused by mutations in FBN1, encoding fibrillin 1 protein which provides force bearing structural support in elastic and nonelastic connective tissue, located on the chromosome 15q21.1. The prevalence of the disease has been reported as 0.02-0.03% and approximately 25.0% of patients are sporadic due to de novo mutations. Early onset MFS (eoMFS) represents the most severe end of the spectrum of MFS, which is clinically distinguished from the other forms by its association with severe mitral and/or tricuspid valve insufficiency showing a relentless progression resulting in heart failure and death within the first 2 years of life [1]. Early onset MFS is usually caused by de novo mutations between exons 24 and 32 of FBN1 [2,3]. Early diagnosis in the neonatal period and the initiation of anticongestive treatment are crucial to prevent the early development of the refractory heart failure in the newborns. This study presents two cases of eoMFS and a review of the literature.

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