Evidence map›Paper›PMID 40054919›Full record

ArticleJACC. Case reports2025

Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants.

Chiara De Luca, Arianna Di Daniele, Simone Marziali, Simonetta Picone, Marco Salvatore, Giulio Folino, Paola Fortugno, Ruggero De Paulis, Francesco Brancati

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Chiara De LucaDepartment of Life, Health and Environmental Science, University of L'Aquila, Italy.
Arianna Di DanieleDepartment of Life, Health and Environmental Science, University of L'Aquila, Italy.
Simone MarzialiIRCCS San Raffaele Cassino, Cassino, Italy; IRCCS San Raffaele Pisana Roma, Rome, Italy.
Simonetta PiconeNeonatology and Neonatal Intensive Care Unit, Policlinico Casilino, Rome, Italy.
Marco SalvatoreNational Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy.
Giulio FolinoDepartment of Cardiac Surgery, European Hospital and UniCamillus University Rome, Italy.
Paola FortugnoHuman Functional Genetics Laboratory, IRCCS San Raffaele Pisana Roma, Rome, Italy; Università Telematica San Raffaele, Rome, Italy.
Ruggero De PaulisDepartment of Cardiac Surgery, European Hospital and UniCamillus University Rome, Italy.
Francesco BrancatiDepartment of Life, Health and Environmental Science, University of L'Aquila, Italy; Human Functional Genetics Laboratory, IRCCS San Raffaele Pisana Roma, Rome, Italy. Electronic address: francesco.brancati@univaq.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 23-year-old woman underwent valve-sparing root replacement for an asymmetric aneurysm affecting the sinuses of Valsalva (SVA). Genetic analysis revealed a novel variant in the FLNA gene leading to frameshift and a premature stop codon in Filamin A. SVA, typically multiple and affecting the coronary sinus, is a cardinal feature and a handle for diagnosis of FLNA deficiency.

Indexed as

FLNAsinus of Valsalva aneurysmvascular hereditary connective tissue disorders

Identifiers

PMID40054919
PMCPMC11911888

What OpenQuestion holds

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Registered trials

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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.