title: 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.
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.
authors.affiliation: Department of Pediatric Cardiology, University of Bonn, Adenauerallee 119, 53113 Bonn, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Weidenbach
authors.forename: R
authors.initials: R
authors.lastname: Brenner
authors.forename: T
authors.initials: T
authors.lastname: Rantamäki
authors.forename: D A
authors.initials: DA
authors.lastname: Redel
mesh_terms: D000208:Acute Disease; D002423:Cause of Death; D002815:Chordae Tendineae; D004252:DNA Mutational Analysis; D018618:Echocardiography, Doppler, Color; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D000071838:Fibrillin-1; D000071837:Fibrillins; D017353:Gene Deletion; D006331:Heart Diseases / Q000235:genetics*; D006333:Heart Failure / Q000235:genetics; D006801:Humans; D007223:Infant; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics*; D012422:Rupture, Spontaneous; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines