Evidence map›Paper›PMID 20503496›Full record

ReviewEuropean journal of clinical investigation2010

Hypertrophic cardiomyopathy: from genetics to treatment.

Ali J Marian

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in European journal of clinical investigation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed
9.7field-weighted citation impact, top 1% 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

51 citing papers in PubMed, 125 citations in OpenAlex.

  1. Article
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  13. Hypertrophic Cardiomyopathy: A Review.Arquivos brasileiros de cardiologia · 2020
    Review
  14. Article
  15. Article
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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

1 author at 1 institution in 1 country.

Ali J MarianCenter for Cardiovascular Genetics, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center and Texas Heart Institute at St. Luke's Episcopal Hospital, 6770 Bertner Street, Suite C900A, Houston, TX 77030, USA. ali.j.marian@uth.tmc.edu
Brown Foundation · US

Funding

Canonical Wnt Signaling in Pathogenesis and Rescue of ARVC PhenotypeR01HL088498 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MARIAN, ALI J · 2008 to 2017
$3.4M
Modifier Genes of Familial Hypertrophic CardiomyopathyR01HL068884 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI MARIAN, ALI J. · 2001 to 2005
$3.2M
NHLBI NIH HHS R01 HL068884NHLBI NIH HHS R01 HL088498
6 · The paper itself

Abstract

backgroundHypertrophic cardiomyopathy (HCM) is the prototypic form of pathological cardiac hypertrophy. HCM is an important cause of sudden cardiac death in the young and a major cause of morbidity in the elderly.

designWe discuss the clinical implications of recent advances in the molecular genetics of HCM.

resultsThe current diagnosis of HCM is neither adequately sensitive nor specific. Partial elucidation of the molecular genetic basis of HCM has raised interest in genetic-based diagnosis and management. Over a dozen causal genes have been identified. MYH7 and MYBPC3 mutations account for about 50% of cases. The remaining known causal genes are uncommon and some are rare. Advances in DNA sequencing techniques have made genetic screening practical. The difficulty, particularly in the sporadic cases and in small families, is to discern the causal from the non-causal variants. Overall, the causal mutations alone have limited implications in risk stratification and prognostication, as the clinical phenotype arises from complex and often non-linear interactions between various determinants.

conclusionsThe clinical phenotype of 'HCM' results from mutations in sarcomeric proteins and subsequent activation of multiple cellular constituents including signal transducers. We advocate that HCM, despite its current recognition and management as a single disease entity, involves multiple partially independent mechanisms, despite similarity in the ensuing phenotype. To treat HCM effectively, it is necessary to delineate the underlying fundamental mechanisms that govern the pathogenesis of the phenotype and apply these principles to the treatment of each subset of clinically recognized HCM.

Indexed as

Molecular BiologyCardiomyopathy, HypertrophicConnectinDeath, Sudden, CardiacHumansMuscle ProteinsMutationPhenotypeRisk FactorsConnectinMuscle ProteinsTCAP protein, human

Identifiers

PMID20503496
PMCPMC2903630
OpenAlexW2167320958

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.