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

Published online by Cambridge University Press:  09 August 2013

Huda Elshershari  and
Catharine Harris
Huda Elshershari*
Affiliation:
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America
Catharine Harris
Affiliation:
Department of Child Health, University of Missouri Health System, Columbia, Missouri, United States of America
*
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
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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.

Keywords

Marfanneonateechocardiogram
Type
Brief Reports
Information
Cardiology in the Young , Volume 24 , Issue 4 , August 2014 , pp. 735 - 738
Copyright
Copyright © Cambridge University Press 2013 

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