Evidence map›Paper›PMID 34776080›Full record

ReviewHeart failure clinics2022

Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.

Michele Lioncino, Emanuele Monda, Federica Verrillo, Elisabetta Moscarella, Giulio Calcagni, Fabrizio Drago, Bruno Marino, Maria Cristina Digilio, Carolina Putotto, Paolo Calabrò and 5 more

Open access · greenAbstract readReview
In one paragraph

Review in Heart failure clinics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
4.0field-weighted citation impact, top 5% 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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.

  1. Guideline
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  5. Review
  6. Article
  7. Review
  8. Article
  9. Article
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  11. Article
  12. Article
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  14. Tailored therapeutics for cardiomyopathies.Nature reviews. Cardiology · 2025
    Review
  15. Article
  16. Cardiovascular aspects of Noonan syndrome and related disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025
    Article
  17. Review
  18. Article
  19. Article
  20. Promising But Not Yet the Promised Land.JACC. Basic to translational science · 2025
    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

15 authors at 8 institutions in 3 countries.

Michele LioncinoDepartment of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples.
Emanuele MondaDepartment of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples.
Federica VerrilloDepartment of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples.
Elisabetta MoscarellaDepartment of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples; Division of Cardiology, A.O.R.N. "Sant'Anna & San Sebastiano", Caserta I-81100, Italy.
Giulio CalcagniThe European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart; Pediatric Cardiology and Arrhythmia/Syncope Units, Bambino Gesù Children's Hospital IRCSS, Rome, Italy.
Fabrizio DragoThe European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart; Pediatric Cardiology and Arrhythmia/Syncope Units, Bambino Gesù Children's Hospital IRCSS, Rome, Italy.
Bruno MarinoDepartment of Pediatrics, Sapienza University of Rome, Rome, Italy.
Maria Cristina DigilioGenetics and Rare Disease Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Carolina PutottoDepartment of Pediatrics, Sapienza University of Rome, Rome, Italy.
Paolo CalabròDepartment of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples; Division of Cardiology, A.O.R.N. "Sant'Anna & San Sebastiano", Caserta I-81100, Italy.
Maria Giovanna RussoDepartment of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples; Department of Pediatric Cardiology, AORN dei Colli, Monaldi Hospital, Naples.
Amy E RobertsDepartment of Cardiology, Children's Hospital Boston, Boston, MA, USA.
Bruce D GelbDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Marco TartagliaGenetics and Rare Disease Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Giuseppe LimongelliDepartment of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples; Division of Cardiology, A.O.R.N. "Sant'Anna & San Sebastiano", Caserta I-81100, Italy. Electronic address: limongelligiuseppe@libero.it.
University of Campania "Luigi Vanvitelli" · ITBambino Gesù Children's Hospital · ITSapienza University of Rome · ITBoston Children's Hospital · USERN GUARD-Heart · NLIcahn School of Medicine at Mount Sinai · USIstituti di Ricovero e Cura a Carattere Scientifico · ITOspedale Monaldi · IT

Funding

Pediatric Heart Disease: Getting from Mutations to TherapeuticsR35HL135742 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2017 to 2023
$6.1M
NHLBI NIH HHS R35 HL135742
6 · The paper itself

Abstract

RASopathies are multisystemic disorders caused by germline mutations in genes linked to the RAS/mitogen-activated protein kinase pathway. Diagnosis of RASopathy can be triggered by clinical clues ("red flags") which may direct the clinician toward a specific gene test. Compared with sarcomeric hypertrophic cardiomyopathy, hypertrophic cardiomyopathy in RASopathies (R-HCM) is associated with higher prevalence of congestive heart failure and shows increased prevalence and severity of left ventricular outflow tract obstruction. Biventricular involvement and the association with congenital heart disease, mainly pulmonary stenosis, have been commonly described in R-HCM. The aim of this review is to assess the prevalence and unique features of R-HCM and to define the available therapeutic options.

Indexed as

Cardiomyopathy, HypertrophicHeart Defects, CongenitalNoonan SyndromeGenetic TestingHumansPrognosisCardio-facio.cutaneousCostelloHypertrophic cardiomyopathyLEOPARDNoonanRASopathies

Identifiers

PMID34776080
PMCPMC9674037
OpenAlexW3209673936

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.