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Titolo:
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
Autore:
Weidenbach, M; Brenner, R; Rantamaki, T; Redel, DA;
Indirizzi:
Univ Bonn, Dept Pediat Cardiol, D-53113 Bonn, Germany Univ Bonn Bonn Germany D-53113 ept Pediat Cardiol, D-53113 Bonn, Germany Univ Bonn, Dept Neonatol, D-53113 Bonn, Germany Univ Bonn Bonn Germany D-53113 onn, Dept Neonatol, D-53113 Bonn, Germany Natl Publ Hlth Inst, Dept Human Mol Genet, Helsinki, Finland Natl Publ Hlth Inst Helsinki Finland Human Mol Genet, Helsinki, Finland
Titolo Testata:
PEDIATRIC CARDIOLOGY
fascicolo: 5, volume: 20, anno: 1999,
pagine: 382 - 385
SICI:
0172-0643(199909/10)20:5<382:AMRDTC>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
ECTOPIA LENTIS; FIBRILLIN; MUTATIONS;
Keywords:
neonatal Marfan syndrome; fibrillin-1 gene; acute mitral regurgitation; beta-adrenergic blockade; chordal rupture;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Weidenbach, M Univ Bonn, Dept Pediat Cardiol, Adenauerallee 119, D-53113 Bonn, Germany Univ Bonn Adenauerallee 119 Bonn Germany D-53113 n, Germany
Citazione:
M. Weidenbach 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", PEDIAT CARD, 20(5), 1999, pp. 382-385

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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 12:05:46