Atrioventricular septal defect

Common Name(s)

Atrioventricular septal defect

Atrioventricular septal defects (AVSD) are a group of heart defects present at birth (congenital). Normally the four heart chambers are separated by walls (septum) to keep oxygen rich and oxygen poor blood separate. The blood flow between the chambers is controlled by valves. AVSDs are caused by a hole being present in the upper chambers (atrium) which allows a mixing of blood. AVSDs may also include defects in the AV valves. These birth defects cause the heart to send too much blood to the lungs. The overworked heart enlarges and causes the blood pressure in the lungs to become too high. Ultimately, an AVSD can lead to heart failure.

Common symptoms include difficulty breathing, abnormal heartbeats (arrhythmia), and poor blood circulation, which can cause bluish lips and skin and swelling in the legs (edema). Children with an AVSD may also have poor appetite and become tired easily. Sometimes symptoms may not appear for weeks or months after birth. The causes of AVSDs are believed to be a combination of genetics and environment. Babies with Down syndrome are at an increased risk for developing the condition. Other risk factors include the mother drinking alcohol during pregnancy or poorly controlled maternal diabetes.

Doctors may hear a swishing sound in the heartbeat (a murmur) when listening with a stethoscope. Tests used to confirm a VSD may include a chest X-ray, electrocardiogram (EKG) (tests the electrical impulses), echocardiogram (used sound waves to create a picture), or cardiac MRI.

Smaller defects may close on their own, but the most common treatment is surgical repair. If your baby or child has been diagnosed with an AVSD, talk to their pediatric cardiologist (a heart doctor for children) about the most current treatment options. Support organizations and genetic counselors are also a good source of information and can help connect you with others affected by AVSDs.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Atrioventricular septal defect" for support, advocacy or research.

Logo
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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General Support Organizations

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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 102 free, full-text research articles on human participants. First 3 results:

Transesophageal echocardiography in an atrioventricular septal defect.
 

Author(s): Rohan Magoon, Arindam Choudhury, Amita Sharma, Poonam Malhotra Kapoor

Journal: Ann Card Anaesth. ;19(4):587-588.

 

Last Updated: 7 Oct 2016

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Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients.
 

Author(s): Lei Wang, Zhifei Li, Xiaobo Song, Li Liu, Guohai Su, Ying Cui

Journal: Int Heart J. 2016 Jul;57(4):490-5.

 

Down syndrome (DS) is a common chromosome 21 abnormality disease, leading to various health problems, especially atrioventricular septal defect (AVSD). Genes and microRNAs (miRNAs) associated with AVSD in DS patients still need in-depth study.Gene expression data (GSE34457) of 22 ...

Last Updated: 28 Jul 2016

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Totally robotic repair of atrioventricular septal defect in the adult.
 

Author(s): Changqing Gao, Ming Yang, Cangsong Xiao, Huajun Zhang

Journal:

 

Atrioventricular septal defect (AVSD) accounts for up to 3 % of congenital cardiac defects, which is routinely repaired via median sternotomy. Minimally invasive approach such as endoscopic or robotic assisted repair for AVSD has not been reported in the literature. With the experience ...

Last Updated: 7 Nov 2015

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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 3 free, full-text review articles on human participants. First 3 results:

Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.
 

Author(s): Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath

Journal:

 

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic ...

Last Updated: 27 Oct 2015

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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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Familial atrioventricular septal defect: possible genetic mechanisms.
 

Author(s): A Kumar, C A Williams, B E Victorica

Journal: Br Heart J. 1994 Jan;71(1):79-81.

 

Most non-chromosomal congenital heart defects are thought to be caused by the interaction of genetic factors involving multiple genes and environmental factors. Families that have several affected members have been reported, however, which suggests that a single autosomal dominant ...

Last Updated: 10 Mar 1994

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle
 

Status: Not yet recruiting

Condition Summary: Hypoplastic Left Heart Syndrome; Atrioventricular Canal

 

Last Updated: 15 Mar 2017

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