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

M Weidenbach; R Brenner; T Rantamäki; D A Redel

doi:10.1007/s002469900493

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

Authors

M Weidenbach¹, R Brenner, T Rantamäki, D A Redel

Affiliation

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

PMID: 10441700
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