Evidence map›Paper›PMID 19184181›Full record

ReviewPediatric cardiology2009

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Josef Finsterer

Abstract readReview
PubMed Publisher
In one paragraph

Review in Pediatric cardiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed
–field-weighted citation impact
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

72 citing papers in PubMed.

  1. Review
  2. Left Ventricular Non-Compaction: Evolving Concepts.Journal of clinical medicine · 2024
    Review
  3. Review
  4. Article
  5. Review
  6. Article
  7. Cardiac disease in mitochondrial disorders.Heart failure reviews · 2021
    Article
  8. Article
  9. Multisystem disease including stroke, epilepsy, dystonia, noncompaction, and kidney agenesis requires genetic work-up.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020
    Article
  10. Review
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Updates on the Genetic Paradigm in Heart Failure.Current treatment options in cardiovascular medicine · 2019
    Review
  17. Comments on: Isolated Nonocompaction Suggests Subclinical Myopathy.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2019
    Article
  18. Review
  19. Article
  20. Phenotypic spectrum ofBiomedical reports · 2018
    Review

12 more citing papers are in PubMed but not listed here.

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.

Josef FinstererKrankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria, Europe. fifigs1@yahoo.de

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLeft ventricular hypertrabeculation (LVHT), also known as noncompaction or spongy myocardium, is a cardiac abnormality of unknown etiology and pathogenesis frequently associated with genetic cardiac and noncardiac disorders, particularly genetic neuromuscular disease. This study aimed to review the current knowledge about the genetic or pathogenetic background of LVHT.

methodsA literature review of all human studies dealing with the association of LVHT with genetic cardiac and noncardiac disorders, particularly neuromuscular disorders, was conducted.

resultsMost frequently, LVHT is associated with mitochondrial disorders (mtDNA, nDNA mutations), Barth syndrome (G4.5, TAZ mutations), hypertrophic cardiomyopathy (MYH7, ACTC mutations), zaspopathy (ZASP/LDB3 mutations), myotonic dystrophy 1 (DMPK mutations), and dystrobrevinopathy (DTNA mutations). More rarely, LVHT is associated with mutations in the DMD, SCNA5, MYBPC3, FNLA1, PTPN11, LMNA, ZNF9, AMPD1, PMP22, TNNT2, fibrillin2, SHP2, MMACHC, LMX1B, HCCS, or NR0B1 genes. Additionally, LVHT occurs with a number of chromosomal disorders, polymorphisms, and not yet identified genes, as well in a familial context. The broad heterogeneity of LVHT's genetic background suggests that the uniform morphology of LVHT not only is attributable to embryonic noncompaction but also may result from induction of hypertrabeculation as a compensatory reaction of an impaired myocardium.

conclusionsMost frequently, LVHT is associated with mutations in genes causing muscle or cardiac disease, or with chromosomal disorders. These associations require comprehensive cardiac, neurologic, and cytogenetic investigations.

Indexed as

CardiomyopathiesGenetic Diseases, InbornHeartHeart Defects, CongenitalHumans

Identifiers

What OpenQuestion holds

Textmetadata
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.