Favorable long term clinical outcomes in two patients with neonatal Marfan syndrome

Abstract

Neonatal Marfan syndrome is a rare condition with poor prognosis. It is genotypically and phenotypically distinct from classical Marfan syndrome, as it presents with a higher incidence of atrioventricular valve regurgitation and early mortality due to fibrillin 1 (FBN1) gene mutations in exons 23–32. This case series describes two cases of neonatal Marfan syndrome with favorable clinical status at 4 and 2.5 years of age (Patient 1 and Patient 2, respectively). Both patients were noted to have typical Marfanoid physical characteristics after birth, including arachnodactyly and dilated aortic root. Genetic analysis confirmed FBN1 mutation in exons 26 and 27 in patient 1 and patient 2, respectively. Both patients are treated with atenolol and losartan. Patient 2 required valve-sparing aortic root replacement at 24 months of age. Both patients are doing well clinically past the first year of life, which is a rare but favorable clinical outcome for patients with neonatal Marfan syndrome. Our cases highlight that FBN1 mutations result in a broad range of phenotypes and clinical severity, even if the mutations are located in the neonatal region.