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Article

Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.

Cardiology in the young - 1 Aug 2014

Elshershari Huda, Harris Catharine

Abstract excerpt

We describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.

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Source

Identifiers

PMID: 23930893
DOI: 10.1017/S1047951113001029

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.PMID 23930893Read ↗

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Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.Semantic proximity Read ↗

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A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.Semantic proximity Read ↗

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.Semantic proximity Read ↗

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Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome.Semantic proximity Read ↗

Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.Semantic proximity Read ↗

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