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

Author:

Rozendaal L.1,Blom N. A.12,Hilhorst-Hofstee Y.3,Ten Harkel A. D. J.1

Affiliation:

1. Department of Pediatric Cardiology, Willem Alexander Children and Youth Center, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands

2. Department of Pediatric Cardiology, Emma Children's Hospital AMC, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands

3. Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands

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.

Publisher

Hindawi Limited

Subject

General Medicine

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