ArticleEuropean heart journal. Case reports2022
A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.
Article in European heart journal. Case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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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
3 citing papers in PubMed, 3 citations in OpenAlex.
- Marfan and Loeys-Dietz aortic phenotype: A potential tool for diagnosis and management.JTCVS open · 2024Article
- Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study.Cureus · 2024Article
- Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Marfan syndrome (MFS) is an autosomal dominant multisystem connective tissue disorder with increased risk of aortopathy with a high risk of subsequent life-threatening aortic dissection. Diagnosing this condition is reliant on recognizing clinical features and genetic testing for confirming diagnosis, using the revised Ghent criteria. Case summary: We identified a 49-year-old patient who presented with dyspnoea, with Marfan syndrome (MFS) and a previously unreported variant in the fibrillin-1 gene ( Discussion: The discovery of a new pathogenic gene will expand the current aortopathy and MFS database and may lead to more informed clinical management decisions for the timing and nature of interventions.
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Registered trials
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