Evidence map›Paper›PMID 33777698›Full record

ArticleMolecular genetics and metabolism reports2021

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report.

Francesco Cava, Ernesto Cristiano, Maria Beatrice Musumeci, Camilla Savio, Aldo Germani, Maria Lo Monaco, Simona Petrucci, Maria Rosaria Torrisi, Camillo Autore, Speranza Rubattu and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 27% of its field
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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. 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

11 authors at 3 institutions in 1 country.

Francesco CavaDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Ernesto CristianoDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Maria Beatrice MusumeciDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Camilla SavioDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Aldo GermaniDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Maria Lo MonacoDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Simona PetrucciDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Maria Rosaria TorrisiDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Camillo AutoreDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Speranza RubattuDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Maria PianeDepartment of Clinical and Molecular Medicine, School of Medicine and Psychology, "Sapienza" University of Rome, Rome 00189, Italy.
Sapienza University of Rome · ITAzienda Ospedaliera Sant'Andrea · ITIstituto Neurologico Mediterraneo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

QTc prolongation is reported in patients with hypertrophic cardiomyopathy (HCM). However, the causes of the QTc interval increase remain unclear. The main contribution to QTc prolongation in HCM is attributed to the myocardial hypertrophy and related structural damage. In a 24-year-old male proband, affected by HCM and long QTc, we identified by Next Generation Sequencing a pathogenic variant in gene

Indexed as

ACMG, American College of Medical Genetics and GenomicsECG, electrocardiographicHCM, Hypertrophic cardiomyopathyHypertrophic cardiomyopathyICD, Implantable Cardioverter-DefibrillatorKCNQ1LGE, late gadolinium enhancement, late gadolinium enhancementLong QT syndromeLQTS, long-QT syndromeNext generation sequencingNGS, Next Generation SequencingTNNI3

Identifiers

PMID33777698
PMCPMC7985525
OpenAlexW3137871734

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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.