ReviewFrontiers in pediatrics2013
Transposition of great arteries: new insights into the pathogenesis.
Review in Frontiers in pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 116 citations in OpenAlex.
- Reply to Pugnaloni et al. Comment on "Othman et al. Ventricular Topology in Congenital Heart Defects Associated with Heterotaxy: Can We Find Patterns Reflecting the Syndrome-Specific Tendency for Visceral Symmetry?Journal of cardiovascular development and disease · 2026Article
- Prenatal Alcohol Exposure and Congenital Heart Defects: Retinoic Acid Deficiency as a Potential Mechanism in Dextro-Type Transposition of the Great Arteries.Pathophysiology : the official journal of the International Society for Pathophysiology · 2025Article
- Variable Effects of Laterality Genes on Disharmony Between Different Thoraco-Abdominal Organs and Between Individual Cardiac Segments.Pediatric cardiology · 2025Article
- Transposition of the Great Arteries With Intact Ventricular Septum and Fetal-Onset Dilated Cardiomyopathy in a Neonate With a Homozygous NEXN Variant.Case reports in pediatrics · 2025Article
- Review
- Pathogenesis and Surgical Treatment of Dextro-Transposition of the Great Arteries (D-TGA): Part II.Journal of clinical medicine · 2024Review
- Cardiac Development and Factors Influencing the Development of Congenital Heart Defects (CHDs): Part I.International journal of molecular sciences · 2024Review
- Prenatal transposition of great arteries diagnosis and management: a Chinese single-center study.Frontiers in cardiovascular medicine · 2024Article
- Article
- Article
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- Dextro-transposition of great vessels: difficult to detect prenatally, one of the most dangerous and one of the best prognosed.Translational pediatrics · 2022Article
- Human 3p14.3: A Regulatory Region in Transposition of the Great Arteries.Circulation research · 2022Article
- A 34-Year-Old Thai Man Presenting with Pulmonary Stenosis and Heart Failure 24 Years After Surgical Correction with the Rastelli Procedure for Congenital Dextro-Transposition of the Great Artery, Ventricular Septal Defect, and Pulmonary Atresia.The American journal of case reports · 2022Article
- Editorial: MicroRNAs in Heart Regeneration: Regulatory Mechanisms and Therapeutic Applications.Frontiers in cardiovascular medicine · 2022Article
- Modeling Transposition of the Great Arteries with Patient-Specific Induced Pluripotent Stem Cells.International journal of molecular sciences · 2021Article
- Potential role of an athlete-focused echocardiogram in sports eligibility.World journal of cardiology · 2021Review
- Is Transposition of the Great Arteries Associated With Shortening of the Intrapericardial Portions of the Great Arterial Trunks? An Echocardiographic Analysis on Newborn Infants With Simple Transposition of the Great Arteries to Explore an Animal Model-Based Hypothesis on Human Beings.Journal of the American Heart Association · 2021Article
- Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns.Journal of personalized medicine · 2021Review
- Genetics of Transposition of Great Arteries: Between Laterality Abnormality and Outflow Tract Defect.Journal of cardiovascular translational research · 2021Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transposition of great arteries (TGA) is one of the most common and severe congenital heart diseases (CHD). It is also one of the most mysterious CHD because it has no precedent in phylogenetic and ontogenetic development, it does not represent an alternative physiological model of blood circulation and its etiology and morphogenesis are still largely unknown. However, recent epidemiologic, experimental, and genetic data suggest new insights into the pathogenesis. TGA is very rarely associated with the most frequent genetic syndromes, such as Turner, Noonan, Williams or Marfan syndromes, and in Down syndrome, it is virtually absent. The only genetic syndrome with a strong relation with TGA is Heterotaxy. In lateralization defects TGA is frequently associated with asplenia syndrome. Moreover, TGA is rather frequent in cases of isolated dextrocardia with situs solitus, showing link with defect of visceral situs. Nowadays, the most reliable method to induce TGA consists in treating pregnant mice with retinoic acid or with retinoic acid inhibitors. Following such treatment not only cases of TGA with d-ventricular loop have been registered, but also some cases of congenitally corrected transposition of great arteries (CCTGA). In another experiment, the embryos of mice treated with retinoic acid in day 6.5 presented Heterotaxy, suggesting a relationship among these morphologically different CHD. In humans, some families, beside TGA cases, present first-degree relatives with CCTGA. This data suggest that monogenic inheritance with a variable phenotypic expression could explain the familial aggregation of TGA and CCTGA. In some of these families we previously found multiple mutations in laterality genes including Nodal and ZIC3, confirming a pathogenetic relation between TGA and Heterotaxy. These overall data suggest to include TGA in the pathogenetic group of laterality defects instead of conotruncal abnormalities due to ectomesenchymal tissue migration.
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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.