Rapports de cas cliniques et médicaux

Neonatal Marfan Syndrome with Novel Fibrillin-1 Gene Mutation: A Case Report

Abstract

Evdoxia Sapountzi*, Alexandra Staberna, Styliani Fidani, Anastasia Keivanidou, Andreas Giannopoulos and Assimina Galli-Tsinopoulou

Marfan syndrome is a rare multi-systemic genetic disorder primarily affecting connective tissue. It manifests prominently in musculoskeletal, orbital and cardiovascular systems. Neonatal Marfan syndrome (nMFS) is distinguished by the occurrence of premature death resulting from rapidly progressive congestive heart failure. This case report presents the clinical presentation of a newborn girl exhibiting dysmorphic features, bilateral myopia and severe cardiac involvement. Genetic analysis revealed a previously unidentified mutation at nucleotide 3964 (c.3346G > A) within intron 26 of the fibrillin-1 gene. This mutation is located in the neonatal region encompassing fibrillin-1 exon 24 to 32. The patient was initially treated with atenolol, followed by a combination of atenolol and irbesartan, which potentially contributed to a reduction in the rate of aortic root dilation. While medical management can delay the progression of cardiac dysfunction, surgical intervention should be reserved as a last option.