Evidence map›Paper›PMID 33174505›Full record

ReviewJournal of the American Heart Association2020

Unraveling the Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy: Obesity-Related Cardiac Defects as a Major Disease Modifier.

Edgar E Nollet, B Daan Westenbrink, Rudolf A de Boer, Diederik W D Kuster, Jolanda van der Velden

Open access · goldAbstract readReview
In one paragraph

Review in Journal of the American Heart Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 9% 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Western diet triggers cardiac dysfunction in heterozygousJournal of molecular and cellular cardiology plus · 2023
    Article
  15. Review
  16. Article
  17. Review
  18. Familial Hypertrophic Cardiomyopathy: Diagnosis and Management.Vascular health and risk management · 2023
    Review
  19. Article
  20. Genetic Testing in Patients with Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2021
    Review
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

5 authors at 3 institutions in 1 country.

Edgar E NolletDepartment of Physiology Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam Cardiovascular Sciences Amsterdam The Netherlands.
B Daan WestenbrinkDepartment of Cardiology University of Groningen University Medical Center Groningen Groningen The Netherlands.
Rudolf A de BoerDepartment of Cardiology University of Groningen University Medical Center Groningen Groningen The Netherlands.
Diederik W D KusterDepartment of Physiology Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam Cardiovascular Sciences Amsterdam The Netherlands.
Jolanda van der VeldenDepartment of Physiology Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam Cardiovascular Sciences Amsterdam The Netherlands.
Amsterdam University Medical Centers · NLUniversity Medical Center Groningen · NLNetherlands Heart Institute · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy and is characterized by asymmetric septal thickening and diastolic dysfunction. More than 1500 mutations in genes encoding sarcomere proteins are associated with HCM. However, the genotype-phenotype relationship in HCM is incompletely understood and involves modification by additional disease hits. Recent cohort studies identify obesity as a major adverse modifier of disease penetrance, severity, and clinical course. In this review, we provide an overview of these clinical findings. Moreover, we explore putative mechanisms underlying obesity-induced sensitization and aggravation of the HCM phenotype. We hypothesize obesity-related stressors to impact on cardiomyocyte structure, metabolism, and homeostasis. These may impair cardiac function by directly acting on the primary mutation-induced myofilament defects and by independently adding to the total cardiac disease burden. Last, we address important clinical and pharmacological implications of the involvement of obesity in HCM disease modification.

Indexed as

Cardiomyopathy, HypertrophicGenotypeHumansMutationObesityPhenotypeSarcomeresdisease modifiershypertrophic cardiomyopathyobesitypathophysiologytype 2 diabetes mellitus

Identifiers

PMID33174505
PMCPMC7763714
OpenAlexW3106383159

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.