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. Sep-Oct 1999;20(5):382-5. doi: 10.1007/s002469900493.

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.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Cause of Death
  • Chordae Tendineae*
  • DNA Mutational Analysis
  • Echocardiography, Doppler, Color
  • Exons / genetics
  • Fatal Outcome
  • Fibrillin-1
  • Fibrillins
  • Gene Deletion*
  • Heart Diseases / genetics*
  • Heart Failure / genetics
  • Humans
  • Infant
  • Marfan Syndrome / complications*
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Mitral Valve Insufficiency / diagnostic imaging
  • Mitral Valve Insufficiency / genetics*
  • Rupture, Spontaneous

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins