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Cardiology in the young · Aug 2014
Case ReportsPaternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.
- Huda Elshershari and Catharine Harris.
- 1Department of Pediatrics,Medical College of Wisconsin,Milwaukee,Wisconsin,United States of America.
- Cardiol Young. 2014 Aug 1;24(4):735-8.
AbstractWe 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.
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