Evidence map›Paper›PMID 32341788›Full record

Observational studyOpen heart2020

Hypertrophic cardiomyopathy in myosin-binding protein C (

Berglind Adalsteinsdottir, Michael Burke, Barry J Maron, Ragnar Danielsen, Begoña Lopez, Javier Diez, Petr Jarolim, Jonathan Seidman, Christine E Seidman, Carolyn Y Ho and 1 more

Open access · goldAbstract readObservational Study
In one paragraph

Observational study in Open heart, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.3field-weighted citation impact, top 17% 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

13 citing papers in PubMed, 19 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Human Genetics of Cardiomyopathies.Advances in experimental medicine and biology · 2024
    Article
  7. The Relationship between Changes inJournal of cardiovascular development and disease · 2023
    Review
  8. An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2023
    Review
  9. Review
  10. Review
  11. Article
  12. Article
  13. Phenotypic Diversity of Cardiomyopathy Caused by anMedicina (Kaunas, Lithuania) · 2021
    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 6 institutions in 4 countries.

Berglind AdalsteinsdottirDepartment of Medicine, University of Iceland, Reykjavik, Iceland.ORCID 0000-0002-4732-0963
Michael BurkeDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Barry J MaronHypertrophic Cardiomyopathy Center, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts, USA.
Ragnar DanielsenDivision of Cardiology, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland.
Begoña LopezProgram of Cardiovascular Diseases, Centre for Applied Medical Research, University of Navarra, Pamplona, Navarra, Spain.
Javier DiezProgram of Cardiovascular Diseases, Centre for Applied Medical Research, University of Navarra, Pamplona, Navarra, Spain.
Petr JarolimDepartment of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Jonathan SeidmanDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Carolyn Y HoCardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Gunnar Th GunnarssonDepartment of Medicine, University of Iceland, Reykjavik, Iceland.
Brigham and Women's Hospital · USHarvard University · USInstituto de Salud Carlos III · ESUniversity of Iceland · ISNational University Hospital of Iceland · ISTufts Medical Center · US

Funding

Using Genetics For Early Phenotyping & Prevention of Hypertrophic CardiomyopathyP50HL112349 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HO, CAROLYN Y, SEIDMAN, CHRISTINE E · 2012 to 2017
$11.2M
Molecular Signaling in Hypertrophic CardiomyopathyR01HL084553 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2007 to 2022
$5.9M
Using Genetics for Early Phenotyping & Prevention of Hypertrophic CardiomyopathyP20HL101408 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HO, CAROLYN Y, SEIDMAN, CHRISTINE E · 2010 to 2011
$1.5M
Howard Hughes Medical InstituteNHLBI NIH HHS P20 HL101408NHLBI NIH HHS P50 HL112349NHLBI NIH HHS R01 HL084553
6 · The paper itself

Abstract

Objective: The myosin-binding protein C ( Methods: We studied 60 probands with HCM caused by Results: Genetic and clinical evaluation of relatives identified 49 genotype-positive (G+) relatives with left ventricular hypertrophy (G+/LVH+), 59 G+without LVH (G+/LVH-) and 117 genotype-negative relatives (unaffected). Compared with HCM probands, G+/LVH+ relatives were older at HCM diagnosis, had less LVH, a less prevalent diastolic dysfunction, fewer ECG abnormalities, lower serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) and high-sensitivity cardiac troponin I levels, and fewer symptoms. The penetrance of HCM was influenced by age and sex; specifically, LVH was present in 39% of G+males but only 9% of G+females under age 40 years (p=0.015), versus 86% and 83%, respectively, after age 60 (p=0.89). G+/LVH- subjects had normal wall thicknesses, diastolic function and NT-proBNP levels, but subtle changes in LV geometry and more ECG abnormalities than their unaffected relatives. Conclusions: Phenotypic expression of the Icelandic

Indexed as

Founder EffectHeterozygoteMutationAdultAgedAge of OnsetCardiomyopathy, HypertrophicCarrier ProteinsCross-Sectional StudiesFemaleGenetic Predisposition to DiseaseHemodynamicsHeredityHumansIcelandMaleCarrier ProteinsMyosin Binding Protein Ccardiomyopathy hypertrophicechocardiographygenetics

Identifiers

PMID32341788
PMCPMC7174027
OpenAlexW3014841271

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.