ReviewClinical research in cardiology : official journal of the German Cardiac Society2010
Molecular genetics of congenital atrial septal defects.
Review in Clinical research in cardiology : official journal of the German Cardiac Society, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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.
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Who cites it
33 citing papers in PubMed, 73 citations in OpenAlex.
- Beyond Tachycardia-Induced Cardiomyopathy: ABCC9-Related Dilated Cardiomyopathy and Familial Atrial Fibrillation.JACC. Case reports · 2025Article
- The Congenital Malformation of the Interatrial Septum-A Review of Its Development and Embryology with Clinical Implications.Journal of developmental biology · 2025Review
- Article
- Adult Congenital Heart Disease in the Emergency Department.Journal of personalized medicine · 2024Review
- Percutaneous embolization of pulmonary arteriovenous malformations in adult patient with Rendu-Osler-Weber: a case report.European heart journal. Case reports · 2023Article
- Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population.Circulation. Genomic and precision medicine · 2023Article
- Caroli syndrome associated with atrial septal defect and polydactyly: a case report.Journal of medical case reports · 2023Article
- Genetic resiliency associated with dominant lethalCell reports. Medicine · 2022Article
- Article
- Identification and functional study of GATA4 gene regulatory variants in atrial septal defects.BMC cardiovascular disorders · 2021Article
- The Double MutationInternational journal of molecular sciences · 2021Article
- Placental epigenetics for evaluation of fetal congenital heart defects: Ventricular Septal Defect (VSD).PloS one · 2019Article
- Atrial septal defects and pulmonary arterial hypertension.Journal of thoracic disease · 2018Review
- An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.Genes & development · 2018Article
- Article
- Multiple Roles of Pitx2 in Cardiac Development and Disease.Journal of cardiovascular development and disease · 2017Review
- Atrial septal defect in a Korean wild raccoon dog.The Journal of veterinary medical science · 2017Article
- Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease: A Primer for Anesthesiologists.Anesthesia and analgesia · 2016Review
- Mild decrease in TBX20 promoter activity is a potentially protective factor against congenital heart defects in the Han Chinese population.Scientific reports · 2016Article
- Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.Journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart defects (CHD) are the most common developmental errors in humans, affecting 8 out of 1,000 newborns. Clinical diagnosis and treatment of CHD has dramatically improved in the last decades. Hence, the majority of CHD patients are now reaching reproductive age. While the risk of familial recurrence has been evaluated in various population studies, little is known about the genetic pathogenesis of CHD. In recent years significant progress has been made in uncovering genetic processes during cardiac development. Data from human genetic studies in CHD patients indicate that the genetic aetiology was presumably underestimated in the past. Inherited mutations in genes encoding cardiac transcription factors and sarcomeric proteins were found as an underlying cause for familial recurrence of non-syndromic CHD in humans, in particular cardiac septal defects. Notably, the cardiac phenotypes most frequently seen in mutation carriers are ostium secundum atrial septal defects (ASDII). This review outlines experimental approaches employed for the detection of CHD-related genes in humans and summarizes recent findings in molecular genetics of congenital cardiac septal defects with an emphasis on ASDII.
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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.