Atrioventricular Septal Defect

A range of congenital heart septal defects characterized by both a common atrioventricular junction and deficient atrioventricular septation. Germline mutations in the COL6A1, COL6A2, and CRELD1 genes have been identified. OMIM: 606215

Also Known As:

Networked: 145 relevant articles (2 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Double Outlet Right Ventricle
2.	Ventricular Heart Septal Defects (Ventricular Septal Defect)
3.	Atrioventricular Septal Defect
4.	Tetralogy of Fallot (Fallot Tetralogy)
5.	Congenital Heart Defects (Congenital Heart Defect)

Experts

1.	Hirata, Yasutaka: 4 articles (05/2021 - 01/2018)
2.	Sun, Kun: 3 articles (05/2022 - 11/2010)
3.	Hirahara, Norimichi: 3 articles (01/2021 - 01/2018)
4.	Mital, Seema: 3 articles (04/2016 - 02/2010)
5.	Reamon-Buettner, Stella Marie: 3 articles (01/2013 - 07/2005)
6.	Cohen, Meryl S: 3 articles (02/2012 - 02/2010)
7.	Colan, Steven D: 3 articles (02/2012 - 02/2010)
8.	Lacro, Ronald V: 3 articles (02/2012 - 02/2010)
9.	Sleeper, Lynn A: 3 articles (02/2012 - 02/2010)
10.	Chen, Sun: 2 articles (05/2022 - 12/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Atrioventricular Septal Defect:

1.	Drinking WaterIBA 02/18/2014 - "Treatment with NAC in drinking water in pregestational diabetic mice completely eliminated the incidence of AVSD, TGA, TOF and significantly diminished the incidence of ASD and VSD. "
2.	sapropterin (tetrahydrobiopterin)FDA Link 11/06/2018 - "Oral treatment with sapropterin in the diabetic dams significantly decreased the incidence of CHD s from 59% to 27%, and major abnormalities, such as atrioventricular septal defect and double-outlet right ventricle, were absent in the sapropterin-treated group. "
3.	SolutionsIBA 12/01/1995 - "From the great variability of the anatomy of AV valves and the authors' clinical experience ensues the necessity of an exact surgical solution of AVSD with an aimed and individually modified reconstruction of AV valves." 11/01/2016 - "In the second trial ('VSD trial'), 45 infants and very young children, undergoing ventricular or atrioventricular septal defect correction received one of the following: 30 mg/kg of methylprednisolone intravenously after anaesthesia induction (n = 15), 30 mg/kg methylprednisolone in the cardiopulmonary bypass prime solution (n = 15) or placebo (n = 15). " 02/01/2016 - "Second trial (ventricular septal defect trial), 45 children undergoing ventricular or atrioventricular septal defect correction received one of the following: 30 mg/kg of methylprednisolone IV after anesthesia induction (n = 15), 30 mg/kg methylprednisolone in the cardiopulmonary bypass prime solution (n = 15), or placebo (n = 15). " 11/11/2008 - "58 children with congenital heart diseases, including atrial septal defect, ventricular septal defect, and atrioventricular septal defect, scheduled to undergo CPB, aged 4 - 72 months, were randomly divided into 4 groups: alprostadil Group P (n = 15) receiving alprostadil 10 ng/ml added into the prime solution and continuous pump infusion of alprostadil 10 ngxkg(-1)xmin(-1) via central vein until the end of operation, Group U (n = 15) receiving ulinastatin 20 000 U/kg divided into several doses to be added into the prime solution, Group PU (n = 14) receiving alprostadil and ulinastatin according to the above protocols, and Group C (control group, n = 14) receiving normal saline of the equal volume. "
4.	MethylprednisoloneFDA LinkGeneric 11/01/2016 - "High-dose methylprednisolone reduces shedding of glycocalyx in neonates after complex cardiac surgery but not in older infants after repair of VSD/AVSD with shorter ischaemia times." 11/01/2016 - "In the second trial ('VSD trial'), 45 infants and very young children, undergoing ventricular or atrioventricular septal defect correction received one of the following: 30 mg/kg of methylprednisolone intravenously after anaesthesia induction (n = 15), 30 mg/kg methylprednisolone in the cardiopulmonary bypass prime solution (n = 15) or placebo (n = 15). " 02/01/2016 - "Second trial (ventricular septal defect trial), 45 children undergoing ventricular or atrioventricular septal defect correction received one of the following: 30 mg/kg of methylprednisolone IV after anesthesia induction (n = 15), 30 mg/kg methylprednisolone in the cardiopulmonary bypass prime solution (n = 15), or placebo (n = 15). "
5.	Coenzyme A (CoA)IBA 10/01/2022 - "Consideration of a single-staged approach is warranted for appropriate patients with CoA-AVSD." 10/01/2022 - "Single-stage surgical repair of CoA-AVSD is feasible and reasonable. " 10/01/2022 - "Eighteen CoA-AVSD patients who underwent single-stage repair 2005-2015 by a single surgeon were retrospectively analyzed. " 04/01/2019 - "The recurrence ratios in each maternal CHD were 8.6%, 7.1%, 6.2%, 4.8%, 3.6%, and 1.5% for PS, CoA, TOF, atrioventricular septal defect, VSD, and ASD, respectively. " 10/01/2002 - "(1) The following FMCG changes were observed: a split R-wave (AVSD/TOF, ASDII), prolongation of QRS complex (COA, PS). "
6.	MicroRNAs (MicroRNA)IBA 07/27/2016 - "Genes and microRNAs (miRNAs) associated with AVSD in DS patients still need in-depth study.Gene" 07/27/2016 - "The identified genes and miRNAs might provide a theoretical basis for understanding AVSD in DS patients. " 07/27/2016 - "Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients." 06/11/2015 - "The genes or miRNA involved in Down syndrome associated Alzheimer's disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article. "
7.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 10/05/2012 - "Of note, all of these genes are in the VEGF-A pathway, even though the candidate genes analyzed in this study represented numerous biochemical and developmental pathways, suggesting that rare variants in the VEGF-A pathway might contribute to the genetic underpinnings of AVSD in humans."
8.	Histamine Antagonists (Antihistamines)IBA 09/01/2014 - "The association between antihistamines and AVSD was confirmed in the Eurocat cohort (OR 3.5, 95% CI 1.4-8.7), but we could not replicate the association with overall CHD risk. " 09/01/2014 - "In the HAVEN study, 25 of 771 mothers used antihistamines that were associated with an increased CHD risk (OR 3.0, 95% CI 1.2-7.3), particularly atrioventricular septal defects (AVSD) (OR 5.1, 95 % CI 1.3-20.5) and perimembranous ventricular septal defects (pVSD) (OR 5.1, 95% CI 1.8-14.4). " 09/01/2014 - "We found a positive association between antihistamine use in early pregnancy and CHD risk, particularly AVSD, which seemed to be independent of nausea/vomiting."
9.	Proteins (Proteins, Gene)FDA Link 02/01/2013 - "We analysed the clinical and molecular characteristics of atrioventricular canal defect in patients with mutations affecting genes coding for proteins with role in the RAS/MAPK pathway. " 07/15/2005 - "Therefore, mutations of somatic origin in the binding domains of NKX2-5 were associated specifically with AVSD or VSD and resulted in loss of protein function." 10/01/2018 - "Multiple lines of evidence support a role of calcineurin/NFAT signaling in AVSD, and mutations in CRELD1, a protein functioning as a regulator of calcineurin/NFAT signaling have been reported in a small fraction of affected subjects. " 01/30/2018 - "However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein. "
10.	Cell Adhesion MoleculesIBA 11/01/2010 - "CRELD1 gene, a novel cell adhesion molecule, is a candidate gene for AVSD. " 07/01/2011 - "Of the several genes identified for CHD, CRELD1 is an important cell adhesion molecule crucial in cardiac development, which is known to cause atrioventricular septal defect in Down syndrome and also in sporadic forms of atrioventricular septal defect. "

Therapies and Procedures

1.	Cardiopulmonary Bypass (Heart-Lung Bypass) 01/01/2020 - "Normothermia versus Hypothermia during Cardiopulmonary Bypass in Cases of Repair of Atrioventricular Septal Defect." 01/01/2003 - "Consecutive infants (n = 26) undergoing cardiopulmonary bypass for repair of an unrestrictive ventricular septal defect or atrioventricular septal defect were studied. " 11/01/2016 - "In the second trial ('VSD trial'), 45 infants and very young children, undergoing ventricular or atrioventricular septal defect correction received one of the following: 30 mg/kg of methylprednisolone intravenously after anaesthesia induction (n = 15), 30 mg/kg methylprednisolone in the cardiopulmonary bypass prime solution (n = 15) or placebo (n = 15). " 02/01/2016 - "Second trial (ventricular septal defect trial), 45 children undergoing ventricular or atrioventricular septal defect correction received one of the following: 30 mg/kg of methylprednisolone IV after anesthesia induction (n = 15), 30 mg/kg methylprednisolone in the cardiopulmonary bypass prime solution (n = 15), or placebo (n = 15). "
2.	Anesthesia 02/01/2016 - "Second trial (ventricular septal defect trial), 45 children undergoing ventricular or atrioventricular septal defect correction received one of the following: 30 mg/kg of methylprednisolone IV after anesthesia induction (n = 15), 30 mg/kg methylprednisolone in the cardiopulmonary bypass prime solution (n = 15), or placebo (n = 15). " 09/01/1998 - "Extra attributable fraction for factor x, defined as summary attributable fraction for all factors minus that for all but x, is largest for: 1) paternal marijuana use in transposition of great arteries with intact ventricular septum, 7.8%; 2) paternal anesthesia in tetralogy of Fallot, 3.6%; 3) painting in atrioventricular septal defect with Down syndrome, 5.1 %; 4) solvent/degreasing agent exposure in hypoplastic left heart, 4.6%; 5) sympathomimetics in coarctation of aorta, 5.8%; 6) pesticide exposure in isolated membranous ventricular septal defect, 5.5%; 7) hair dye in multiple/multiplex membranous ventricular septal defect, 3.3%; and 8) urinary tract infection in atrial septal defect, 6.4%. "
3.	Heart Transplantation (Grafting, Heart) 05/01/1993 - "Eighty-three percent of studies were performed in the immediate postoperative period after correction or palliation of congenital heart disease (including transposition of the great arteries, tetralogy of Fallot, atrioventricular septal defect, right ventricular conduit revision, Glenn shunt, and neonatal orthotopic heart transplantation). "
4.	Fontan Procedure (Fontan Operation) 01/01/2023 - "In patients with AVSD and Fontan circulation the rate of moderate or greater common AVV regurgitation is similar in those with LV and RV dominance. " 01/01/2023 - "Atrioventricular septal defect in Fontan circulation: Right ventricular dominance, not valve surgery, adversely affects survival." 05/19/2021 - "Accompanied with unbalanced atrioventricular septal defect for lower ratio of transition to Glenn and Fontan operation." 10/01/2015 - "Utilization of these guidelines in practice is illustrated for single ventricle stage 1 palliation, Fontan operation, truncus arteriosus, and atrioventricular septal defect. " 06/01/2014 - "Extracardiac conduit fontan operation and right ventricular exclusion procedure for right ventricle failure after repair of partial atrioventricular septal defect."
5.	Arterial Switch Operation 01/01/2007 - "A 4-month-old boy underwent successful single-stage anatomic repair of d-transposition of the great arteries with complete balanced atrioventricular canal defect, using the arterial switch procedure and two-patch repair of the atrioventricular canal defect. " 01/01/2021 - "Infants undergoing ventricular septal defect repair, atrioventricular septal defect repair, or superior cavopulmonary anastomosis (lower complexity), and arterial switch operation or isolated aortopulmonary shunt (higher complexity). " 04/01/2017 - "We report the successful primary anatomic correction of an atrioventricular septal defect with transposition of the great arteries and pulmonary stenosis in a 4-year-old girl with left isomerism by common atrioventricular valve division, Mustard-type atrial septation, and a Rastelli operation with ventricular septal defect enlargement. " 12/01/2011 - "The common ACE deletion polymorphism is associated with a greater than 2-fold increase in the odds of developing JET in children undergoing surgical repair of atrioventricular septal defect, Tetralogy of Fallot, ventricular septal defect or the Norwood and arterial switch procedures. " 05/01/2021 - "There was a significantly higher proportion of ventricular septal defect closures and Glenn operations and a significantly lower proportion of coarctation repairs, tetralogy of Fallot repairs, atrioventricular septal defect repairs, arterial switch operations, truncus repairs, Norwood operations, and Fontan operations in JCVSD-Congenital compared to ECHSA-CHSD. "