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Case Reports in Medicine
Volume 2011, Article ID 172109, 5 pages
http://dx.doi.org/10.1155/2011/172109
Case Report

Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

1Department of Pediatric Cardiology, Willem Alexander Children and Youth Center, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands
2Department of Pediatric Cardiology, Emma Children's Hospital AMC, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands
3Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands

Received 18 March 2011; Accepted 18 May 2011

Academic Editor: Ron Rabinowitz

Copyright © 2011 L. Rozendaal et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD), and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS) and congenital contractural arachnodactyly. After surgical VSD closure, the aortic root developed progressive dilatation while the size of pulmonary artery returned to normal limits. Eventually the diagnosis of MFS was confirmed by DNA analysis.