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Acute Mitral Regurgitation Due to Chordal Rupture in a Patient with Neonatal Marfan Syndrome Caused by a Deletion in Exon 29 of the FBN1 Gene

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Abstract.

The neonatal Marfan syndrome is an autosomal dominantly inherited disease with an extremely poor prognosis. This report gives a clinical and echocardiographic description of an infant with a mutation in exon 29 of the fibrillin-1 gene (FBN1), a region in which this severe form of Marfan syndrome seems to cluster. The infant died at the age of 3 months due to severe acute mitral regurgitation leading to intractable heart failure.

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Authors and Affiliations

  1. Department of Pediatric Cardiology, University of Bonn, Adenauerallee 119, 53113 Bonn, Germany, DE

    M. Weidenbach & D.A. Redel

  2. Department of Neonatology, University of Bonn, Adenauerallee 119, 53113 Bonn, Germany, DE

    R. Brenner

  3. Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland, FI

    T. Rantamäki

Authors
  1. M. Weidenbach
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  2. R. Brenner
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  3. T. Rantamäki
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  4. D.A. Redel
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Weidenbach, M., Brenner, R., Rantamäki, T. et al. Acute Mitral Regurgitation Due to Chordal Rupture in a Patient with Neonatal Marfan Syndrome Caused by a Deletion in Exon 29 of the FBN1 Gene. Pediatr Cardiol 20, 382–385 (1999). https://doi.org/10.1007/s002469900493

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  • DOI: https://doi.org/10.1007/s002469900493

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