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

The neonatal Marfan syndrome is an autosomal dominantly inherited disease w ith an extremely poor prognosis. This report gives a clinical and echocardi ographic description of an infant with a mutation in exon 29 of the fibrill in-1 gene (FBN1), a region in which this severe form of Marfan syndrome see ms to cluster. The infant died at the age of 3 months due to severe acute m itral regurgitation leading to intractable heart failure.