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
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)