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.

journal_name

Pediatr Cardiol

journal_title

Pediatric cardiology

authors

Weidenbach M,Brenner R,Rantamäki T,Redel DA

doi

10.1007/s002469900493

subject

Has Abstract

pub_date

1999-09-01 00:00:00

pages

382-5

issue

5

eissn

0172-0643

issn

1432-1971

pii

PEDCL1156R

journal_volume

20

pub_type

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