Atrioventricular Septal Defect

Common Name(s)

Atrioventricular Septal Defect

The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by {5:Craig, 2006}). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome ({190685}), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome ({208530}) (summary by {3:Carmi et al., 1992}). Genetic Heterogeneity of Isolated Atrioventricular Septal Defect An AVSD susceptibility locus (AVSD1) maps to chromosome 1p31-p21; AVSD2 ({606217}) is caused by mutation in the CRELD1 gene ({607170}) on chromosome 3p25; AVSD3 ({600309}) is caused by mutation in the GJA1 gene ({121014}) on chromosome 6q22; AVSD4 ({614430}) is caused by mutation in the GATA4 gene ({600576}) on chromosome 8p23.1; and AVSD5 ({614474}) is caused by mutation in the GATA6 gene ({601656}) on chromosome 18q11. Somatic mutations in the HAND1 gene ({602406}) have been identified in tissue samples from patients with AVSDs.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Atrioventricular Septal Defect" for support, advocacy or research.

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Oklahoma Family Network

To Provide emotional, informational and navigational support to those who have special health care needs or a disability, their families and the professionals who serve them. OFN promotes family/professional partnerships and family-centered care, assuring services are offered as recipients prefer..

Last Updated: 15 Apr 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Atrioventricular Septal Defect" for support, advocacy or research.

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Oklahoma Family Network

To Provide emotional, informational and navigational support to those who have special health care needs or a disability, their families and the professionals who serve them. OFN promotes family/professional partnerships and family-centered care, assuring services are offered as recipients prefer..

http://www.oklahomafamilynetwork.org

Last Updated: 15 Apr 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Atrioventricular Septal Defect" returned 67 free, full-text research articles on human participants. First 3 results:

Echocardiographic features defining right dominant unbalanced atrioventricular septal defect: a multi-institutional Congenital Heart Surgeons' Society study.
 

Author(s): Meryl S Cohen, Anusha Jegatheeswaran, Jeanne M Baffa, David B Gremmels, David M Overman, Christopher A Caldarone, Brian W McCrindle, Luc Mertens

Journal: Circ Cardiovasc Imaging. 2013 Jul;6(4):508-13.

 

Definition and management of right dominant unbalanced atrioventricular septal defect (AVSD) remains challenging because unbalance entails a spectrum of left heart hypoplasia. Previous work has highlighted atrioventricular valve (AVV) index as a reasonable defining echocardiographic ...

Last Updated: 17 Jul 2013

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Results of simplified single-patch repair for complete atrioventricular septal defect.
 

Author(s): Ana Paula Tagliari, Daniel Augusto Schröder, Guaracy Teixeira Filho, Paulo Roberto Prates, João Ricardo M Sant'anna, Ivo A Nesralla, Renato A K Kalil

Journal: Arq. Bras. Cardiol.. 2013 Mar;100(3):288-93.

 

Since Wilcox's description of the simplified single-patch technique for atrioventricular septal defect (AVSD) repair in 1997, several studies have compared that technique with the two-patch technique.

Last Updated: 19 Apr 2013

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Atrioventricular block subsequent to intraoperative device closure atrial septal defect with transthoracic minimal invasion; a rare and serious complication.
 

Author(s): Qiang Chen, Hua Cao, Gui-Can Zhang, Liang-Wan Chen, Dao-Zhong Chen, Qian-Zhen Li, Zhi-Huang Qiu

Journal: PLoS ONE. 2012 ;7(12):e52726.

 

Atrioventricular block (AVB) is a infrequent and serious complication after percutaneous ASD closure. In this study, we report on the incidence of AVB associated with intraoperative device closure of the ASD with transthoracic minimal invasion, and the outcomes of this complication in our center.

Last Updated: 3 Jan 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Atrioventricular Septal Defect" returned 4 free, full-text review articles on human participants. First 3 results:

In adult patients undergoing redo surgery for left atrioventricular valve regurgitation after atrioventricular septal defect correction, is replacement superior to repair?
 

Author(s): Giacomo Bianchi, Stefano Bevilacqua, Marco Solinas, Mattia Glauber

Journal: Interact Cardiovasc Thorac Surg. 2011 Jun;12(6):1033-9.

 

A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was 'In adult patients undergoing redo surgery for left atrioventricular valve regurgitation after atrioventricular septal defect correction, is replacement superior to ...

Last Updated: 10 Jun 2011

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Emergency redo mitral valve replacement and caesarean section in a patient with previous atrioventricular septal defect repair in childhood.
 

Author(s): Mohan P Devbhandari, Ravish Jeeji, Martin Bewsher, Nicholas Odom

Journal: Interact Cardiovasc Thorac Surg. 2009 Jan;8(1):164-5.

 

A 19-year-old primigravida, with a history of mechanical mitral prosthesis at the age of six years following previous repair of an atrioventricular septal defect, presented at 26 weeks' gestation with cardiogenic shock secondary to obstruction of the mitral prosthesis. She underwent ...

Last Updated: 5 Jan 2009

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Atrioventricular septal defect: from fetus to adult.
 

Author(s): Brian Craig

Journal: Heart. 2006 Dec;92(12):1879-85.

 

Last Updated: 19 Nov 2006

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow
 

Status: Not yet recruiting

Condition Summary: Heart Septal Defects, Ventricular; Atrioventricular Septal Defect

 

Last Updated: 7 Oct 2013

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Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass
 

Status: Recruiting

Condition Summary: Congenital Heart Disease; Cardiopulmonary Bypass

 

Last Updated: 11 Apr 2012

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