Cardiology in the Young

Brief Reports

Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition

Huda Elshersharia1 c1 and Catharine Harrisa2

a1 Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America

a2 Department of Child Health, University of Missouri Health System, Columbia, Missouri, United States of America

Abstract

We describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.

(Received April 11 2013)

(Accepted June 04 2013)

(Online publication August 09 2013)

Keywords

  • Marfan;
  • neonate;
  • echocardiogram

Correspondence

c1 Correspondence to: H. Elshershari, MD, Pediatric Cardiologist, 7520 Claridge Dr. Unit G, Bridgeview, IL 60455, United States of America. Tel: +1 708 598 4716; E-mail: Elshershari@hotmail.com