ArticleJACC. Case reports2025
FLNA Mutations in Multisystem Disease: A Diagnostic Key for Unexplained Valvular and Connective Tissue Disorder.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKeloid formation, multivalvular cardiac disease, and pulmonary and skeletal abnormalities rarely present together, suggesting a potential genetic syndrome. Mutations in FLNA have been implicated in such cases, expanding the known phenotypic spectrum. CASE SUMMARY: A 35-year-old male with a history of bicuspid aortic valve, Wolff- Parkinson-White syndrome, asthma, and spondylolisthesis presented with dyspnea. Examination revealed spontaneous keloid formation and echocardiography confirmed severe aortic regurgitation and mitral stenosis. Genetic testing identified an X-linked FLNA mutation (c.4726G>A, p.G1576R). He underwent successful mechanical aortic and mitral valve replacement. DISCUSSION: This case expands the clinical spectrum of FLNA mutations, emphasizing their role in connective tissue, cardiovascular, pulmonary, and skeletal disorders. It magnifies the diagnostic challenge of overlapping syndromes and the importance of genetic testing in unexplained multivalvular disease. TAKE-HOME MESSAGE: Genetic testing is essential in patients with unexplained valvular disease and connective tissue abnormalities, aiding diagnosis and management of FLNA-related syndromes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.