Atrioventricular Septal Defect

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Atrioventricular Septal Defect is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • AVSD
  • Atrioventricular Canal Defects
  • Common Atrioventricular Canal (CAVC) Defect
  • Endocardial Cushion Defects

Disorder Subdivisions

  • Complete Atrioventricular Septal Defect
  • Transitional Atrioventricular Septal Defect
  • Incomplete Atrioventricular Septal Defect
  • Partial Atrioventricular Septal Defect

General Discussion

Atrioventricular septal defect (ASVD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with ASVDs have improperly developed atrial and ventricular septa and adjoining valves.

The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition called the atrial septum. The two lower chambers, known as ventricles, are separated from each other by the ventricular septum. Valves (e.g., mitral and tricuspid) connect the atria (left and right) to their respective ventricles. The valves allow for blood to be pumped through the chambers. Blood travels from the right ventricle through the pulmonary artery to the lungs where it receives oxygen. The blood returns to the heart through pulmonary veins and enters the left ventricle. The left ventricle sends the now oxygen-filled blood into the main artery of the body (aorta). The aorta sends the blood throughout the body.

The parts of the heart described above are formed from an embryonic structure called the endocardial cushions. In individuals with ASVD there is some combination of malformation of these parts of the heart. They may include a hole in the atrial septum, a hole in the ventricular septum, and/or abnormalities of the mitral and triscupid valves. ASVD may be classified as one of three forms: an incomplete (or partial) ASVD (atrial septal defect primum); a transitional form (atrial septal defect and small ventricular septal defect); or a more severe or complete form (large atrial and ventricular defects).

The symptoms of ASVD vary greatly and depend on the severity of the malformations (e.g., valve leakage between ventricles and ventricular size). About half the cases of ASVD occur in children with Down syndrome.

Resources

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton, OH 43558
USA
Tel: (419)825-5575
Fax: (419)825-2880
Email: myer106w@wonder.em.cdc.gov
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

American Lung Association
61 Broadway, 6th Floor
New York, NY 10006
USA
Tel: (212)315-8700
Fax: (212)315-8870
Tel: (800)586-4872
Internet: http://www.lungusa.org

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

Kids With Heart National Association for Children's Heart Disorders, Inc.
P.O Box 12504
Green Bay, WI 54307-2504
Tel: (920)498-0058
Fax: (920)498-0058
Tel: (800)538-5390
Email: michelle@kidswithheart.org
Internet: http://www.kidswithheart.org

Little Hearts, Inc.
P.O. Box 171
110 Court Street, Suite 3A
Cromwell, CT 06416
USA
Tel: (860)635-0006
Fax: (860)635-0006
Tel: (866)435-4673
Email: info@littlehearts.org
Internet: http://www.littlehearts.org

Congenital Heart Information Network (C.H.I.N.)
101 N Washington Ave, Suite 1A 101 N Washington Ave, Suite 1A
Margate City, NJ 08402-1195
Tel: (609)822-1572
Fax: (609)822-1574
Email: mb@tchin.org
Internet: http://www.tchin.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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