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Article

Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.

The Annals of thoracic surgery - 1 Feb 2018

Hibino Makoto, Sakai Yoshimasa, Kato Wataru, Tanaka Keisuke, Tajima Kazuyoshi, Yokoyama Takehiko, Iwasa Mitsuji, Morisaki Hiroko, Tsuzuki Toyonori, Usui Akihiko

Abstract excerpt

EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29362193
DOI: 10.1016/j.athoracsur.2017.08.041

Genes

EFEMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.PMID 29362193Read ↗

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.Semantic proximity Read ↗

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Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting fromEFEMP2mutationsSemantic proximity Read ↗

Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.Semantic proximity Read ↗

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.Semantic proximity Read ↗

Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.Semantic proximity Read ↗

Fibulin-4 Deficiency Results in Ascending Aortic AneurysmsSemantic proximity Read ↗

Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.Semantic proximity Read ↗

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Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.Semantic proximity Read ↗

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