ReviewJornal de pediatria
Genetic and genomics in congenital heart disease: a clinical review.
Review in Jornal de pediatria. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Impacts of COVID-19 on pediatric patients with congenital heart disease: a small systematic and integrative literature review.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2025Pooled it
- Congenital Heart Disease Associated With Genetic Syndromes and Extracardiac Anomalies: A Six-Year Epidemiological Study in a Brazilian Referral Center.Birth defects research · 2026Article
- Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Congenital heart disease: epidemiological profile of live births, geographical distribution and temporal trends in Brazil from 2012 to 2022.BMC cardiovascular disorders · 2025Observational
- Hybrid approach: a prospective option for treating congenital heart defects in pediatric patients.Frontiers in cardiovascular medicine · 2025Review
- Missense mutations in the CITED2 gene may contribute to congenital heart disease.BMC cardiovascular disorders · 2024Article
- Association of maternal weight gain in early pregnancy with congenital heart disease in offspring: a China birth cohort study.BMJ open · 2024Article
- Current genetic models for studying congenital heart diseases: Advantages and disadvantages.Bioinformation · 2024Article
- Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2023Article
- Translational potential of hiPSCs in predictive modeling of heart development and disease.Birth defects research · 2022Review
- Identification ofDiagnostics (Basel, Switzerland) · 2022Article
- A novelExperimental and therapeutic medicine · 2022Article
- Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.Frontiers in genetics · 2022Article
- SOX7 loss-of-function variation as a cause of familial congenital heart disease.American journal of translational research · 2022Article
- Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns.Journal of personalized medicine · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveDiscuss evidence referring to the genetic role in congenital heart diseases, whether chromosomic alterations or monogenic diseases. DATA SOURCE: LILACS, PubMed, MEDLINE, SciELO, Google Scholar, and references of the articles found. Review articles, case reports, book chapters, master's theses, and doctoral dissertations were included. SUMMARY OF
findingsCongenital heart diseases are among the most common type of birth defects, afflicting up to 1% of the liveborn. Traditionally, the etiology was defined as a multifactorial model, with both genetic and external contribution, and the genetic role was less recognized. Recently, however, as the natural evolution and epidemiology of congenital heart diseases change, the identification of genetic factors has an expanding significance in the clinical and surgical management of syndromic or non-syndromic heart defects, providing tools for the understanding of heart development.
conclusionsConcrete knowledge of congenital heart disease etiology and recognition of the genetic alterations may be helpful in the bedside management, defining prognosis and anticipating complications.
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Registered trials
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.