ReviewHeart and vessels2016
Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.
Review in Heart and vessels, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- Open Thoracoabdominal Aortic Replacement in a Long-Term Survivor of Early-Onset Marfan Syndrome.Surgical case reports · 2026Article
- Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.Italian journal of pediatrics · 2024Review
- Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.Orphanet journal of rare diseases · 2024Article
- Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.BMC pediatrics · 2023Article
- Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.Diagnostics (Basel, Switzerland) · 2023Review
- Impact of pathogenicJournal of medical genetics · 2023Article
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.Annals of the New York Academy of Sciences · 2021Article
- Cardiomyopathy in Genetic Aortic Diseases.Frontiers in pediatrics · 2021Review
- Early-Onset Marfan Syndrome: A Case Series.Journal of pediatric genetics · 2019Article
- Article
- Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.Annals of cardiothoracic surgery · 2017Review
Corrections and comments
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6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A subgroup of patients with Marfan syndrome (MFS) who have mutations in exons 24-32 of the FBN1 gene manifests severe atrioventricular valve insufficiency and skeletal problems as early as the neonatal period. These patients usually die in the first 2 years of life, thus a region between exons 24 and 32 of FBN1 is recognized as a critical region for this neonatal form of MFS (nMFS). Here, we report five consecutive patients who manifested a cardiovascular phenotype until infancy with mutations in the critical region for nMFS. Although three of these patients showed severe mitral regurgitation and died before reaching 1 year of age, the remaining two patients survived for over 5 years under medical and/or surgical interventions. Two splicing mutations and one missense mutation were identified in the three deceased patients, whereas two missense mutations were found in the two survivors. Currently, the clinical severity of patients with early-onset MFS harboring mutations in the critical region for nMFS seem to be more variable than ever thought, and intensive treatments are recommended even in this subgroup of patients with MFS.
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