Evidence map›Paper›PMID 25435801›Full record

ArticleCurrent genomics2014

Congenital heart disease: the crossroads of genetics, epigenetics and environment.

Cecilia Vecoli, Silvia Pulignani, Ilenia Foffa, Maria Grazia Andreassi

Open access · bronzeAbstract read
In one paragraph

Article in Current genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 1 pooled it
4.7field-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

52 citing papers in PubMed, 1 synthesis or guideline pooled it, 105 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Association Study ofCardiology research and practice · 2025
    Article
  6. Article
  7. Impact ofReports of biochemistry & molecular biology · 2024
    Article
  8. In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024
    Review
  9. Article
  10. Biological Age in Congenital Heart Disease-Exploring the Ticking Clock.Journal of cardiovascular development and disease · 2023
    Review
  11. Article
  12. Article
  13. Article
  14. Mutational Assessment inInternational journal of environmental research and public health · 2022
    Article
  15. Article
  16. Article
  17. Article
  18. Epigenetics in Congenital Heart Disease.Journal of the American Heart Association · 2022
    Review
  19. Article
  20. 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

4 authors at 1 institution in 1 country.

Cecilia VecoliCNR, Institute of Clinical Physiology, Pisa, Italy.
Silvia PulignaniCNR, Institute of Clinical Physiology, Pisa, Italy.
Ilenia FoffaCNR, Institute of Clinical Physiology, Massa, Italy;
Maria Grazia AndreassiCNR, Institute of Clinical Physiology, Pisa, Italy ; Fondazione Toscana G.Monasterio, Massa, Italy.
Istituto di Fisiologia Clinica · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although recent advances in pre- and neonatal diagnosis as well as in surgical procedures have reduced the morbidity and mortality for many CHD, the etiology for CHD remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplay between inherited and non-inherited causes is recognized. In this paper, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal cardiac development in non-syndromic and isolated CHD, including mutations in cardiac transcription factors, the role of somatic mutations and epigenetic alterations as well as the influence of gene-environment interactions. In the near future, the advent of high-throughput genomic technologies with the integration of system biology will expand our understanding of isolated, non-syndromic CHDs for their prevention, early diagnosis and therapy.

Indexed as

CHDCongenital heart diseaseEnvironmentEpigeneticsGeneticsMethylationmicroRNA.Point mutations

Identifiers

PMID25435801
PMCPMC4245698
OpenAlexW2085945726

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.