ReviewEuropean journal of pediatrics2014
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.
Review in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Fibulin-4 and latent-transforming growth factor beta-binding protein-4 interactions with syndecan-2 and syndecan-3 are required for elastogenesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in theFrontiers in genetics · 2024Article
- Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.European heart journal. Case reports · 2023Article
- Successful surgical intervention for giant thoracic aortic aneurysm in cutis laxa aortopathy.JTCVS techniques · 2022Article
- Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management.Frontiers in cardiovascular medicine · 2021Article
- Increased visceral arterial tortuosity in Marfan syndrome.Orphanet journal of rare diseases · 2020Article
- Giant aortic aneurysm due to fibulin- 4 deficiency: case series.Turk pediatri arsivi · 2019Article
- Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation inMolecular syndromology · 2018Article
- Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.Science advances · 2017Article
- Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice.Disease models & mechanisms · 2016Article
- Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.Cell and tissue research · 2016Article
- 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.The Journal of biological chemistry · 2015Article
- Ascending aortic replacement for aneurysm in a 30-month-old child with EFEMP2-related cutis laxa.Annals of pediatric cardiologyArticle
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledMutations in the EFEMP2 (alias FBLN4) gene, which encodes the extracellular matrix protein fibulin-4, lead to severe aortopathy with aneurysm formation and vascular tortuosity. The disease phenotype, termed autosomal recessive cutis laxa type 1B (ARCL 1B), is rare among heritable connective tissue diseases but becomes more likely when noting family consanguinity and loose, inelastic skin in the patient. Our patient presented with an intercurrent illness exacerbating upper airway obstruction due to compression from a large aortic aneurysm. Genetic testing eventually revealed the causative mutation. She was initially treated with an angiotensin II receptor blocker and beta-blocker and eventually underwent total thoracic aortic replacement via a two-stage elephant trunk-type procedure. She recovered well and is currently asymptomatic but will require lifetime follow-up due to residual vascular tortuosity and aneurysm risk.
conclusionBetter understanding of the importance of transforming growth factor beta signaling in the pathophysiology of aortopathies such as ARCL 1B has led to targeted medical therapies. Specific surgical techniques can lead to optimal outcomes in these patients.
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