Atrioventricular Septal Defect

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.

Symptoms

Infants with the complete form of atrioventricular septal defect usually develop a limited ability to circulate blood to the lungs and the rest of the body resulting in fluid buildup in the heart, lung and various body tissues (congestive heart failure). Pulmonary congestion may lead to difficulty breathing (dyspnea) and fatigue. Infants with complete atrioventricular septal defect often have a bluish discoloration of the skin and mucous membranes (cyanosis) due to insufficient oxygen supply to these tissues.



Other symptoms that may occur in all forms of ASVD include poor feeding, abnormally rapid breathing (tachypnea), excessive sweating, and/or an abnormally rapid heartbeat (tachycardia).



Frequent episodes of acute inflammation of the lungs (pneumonia) and bronchial tubes (bronchitis) are common in children with all forms of ASVD. Abnormally high pressure within the artery that leads to the heart from the lungs (pulmonary artery) may impair lung function and result in permanent pulmonary vascular disease before the age of 1 year. Some more severely affected infants may have congestive heart failure as a direct result of these serious complications.



Older children with untreated ASVD may be at risk for brain abscesses, the development of blood clots (thrombosis) that may travel and lodge in the arteries (embolism), and/or acute inflammation of the inner membranes that line the heart (bacterial endocarditis).



Adults with ASVD who have not had surgery to correct this heart defect may develop Eisenmenger syndrome. This is a rare disorder characterized by restricted blood flow between the lungs and the heart that occurs because of a ventricular septal defect. Symptoms of this condition may include abnormally low blood pressure, irregular heartbeats, and/or rapid heart rate. (For more information on this disorder, choose "Eisenmenger" as your search term in the Rare Disease Database.)

Causes

The exact cause of atrioventricular septal defect is not known (idiopathic). This birth defect can occur alone with no apparent cause (sporadically), or it can occur in association with other disorders such as Down syndrome.



Researchers believe that, in cases of isolated ASVD, environmental, genetic, and/or other factors (multifactorial) may be involved in some way.

Affected Populations

Atrioventricular septal defect affects males and females in equal numbers. Approximately 50 percent of cases occur in association with other disorders, especially Down syndrome. ASVD may also occur with other congenital heart defects, in 10 percent of cases it occurs in association with patent ductus arteriosus or tetralogy of Fallot. (For more information on these disorders, choose the exact disorder name as your search term in the Rare Disease Database.)



The exact incidence of ASVD in the general population is unknown. The complete form of ASVD occurs more often than the partial or transitional forms. Approximately 75 percent of cases of complete ASVD occur in individuals with Down syndrome. Most cases of partial ASVD do not occur in individuals with Down syndrome.

Standard Therapies

Diagnosis

The diagnosis of atrioventricular septal defect can be made by imaging techniques of the heart such as magnetic resonance imaging (MRI) and echocardiogram (EC). In another procedure known as a cardiac catheterization, a long fine tube (catheter) is inserted into a large vein and then channeled directly into the heart. This allows the physician to determine the extent of the defect (i.e., complete, transitional, or incomplete) and to determine the rate of blood flow through the heart. Angiography is another useful diagnostic procedure and allows the physician to view an enhanced x-ray of the heart. Children with ASVD typically have an abnormal EKG reading.



Treatment

Infants with ASVD should be referred to a hospital that can perform sophisticated diagnostic procedures and cardiovascular surgery. Infants with ASVD generally require surgery at a young age, usually before the age of 6 to 12 months.



Prior to surgery, congestive heart failure associated with ASVD may be managed by reducing fluid volume with diuretic drugs and, if necessary, the dietary restriction of fluids and salt. The drug digoxin may also be administered to decrease the heart rate and increase the strength of the heart's contractions. Oxygen therapy and adequate nutrition may also prove beneficial.



Because children with ASVD are susceptible to bacterial infection of the membranes that surround the heart (endocarditis), any respiratory infection should be treated vigorously and early. Affected individuals should also be given antibiotics before invasive dental procedures (e.g., root canal or extractions) or other surgical procedures to help prevent potentially life-threatening infections.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Lange A, Palka P. Atrioventricular Septal Defects. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:43-4.



Cecil Textbook of Medicine, 19th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1992. Pp. 280-84.



The Merck Manual, 16th Ed.: Robert Berkow, Editor; Merck Research Laboratories, 1992. Pp. 2051-55.



Birth Defects Encyclopedia, Mary Louise Buyse, Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 209-10.



Nelson Textbook of Pediatrics, 14th Ed.; Richard E. Behrman et al.; W.B. Saunders Co., 1992. Pp. 1169-70.



JOURNAL ARTICLES

Dunlop KA, Mulholland HC, Casey FA, Craig B, Gladstone DJ. A ten year review of atrioventricular septal defects. Cardiol Young. 2004;14:15-23.



Pretre R, Dave H, Kadner A, Bettex D, Turina MI. Direct closure of the septum primum in atrioventricular canal defects. J Thorac Cardiovasc Surg. 2004;127:1678-81.



Maslen CL. Molecular genetics of atrioventricular septal defects. Curr Opin Cardiol. 2004;19:105-10.



Mahoney LT. Acyanotic congenital heart disease. Atrial and ventricular septal defects, atrioventricular canal, patent ductus arteriosus, pulmonic stenosis. Cardiol Clin. 1993;11:603-16.



Lozano C., et al., Surgery of atrioventricular septal defects. Review of the first 100 cases. Eur J Cardiothorac Surg. 1990;4:359-64.



Cheng TO. Cardiac failure in coronary heart disease. Am Heart J. 1990;120:396-412.



Ilbawi MN. Current status of surgery for congenital heart diseases. Clin Perinatol. 1989;16:157-76.

Resources

American Heart Association

7272 Greenville Avenue

Dallas, TX 75231

Tel: (214)784-7212

Fax: (214)784-1307

Tel: (800)242-8721

Email: Review.personal.info@heart.org

Internet: http://www.heart.org



American Lung Association

1301 Pennsylvania Ave NW

Suite 800

Washington, DC 20004

USA

Tel: (202)785-3355

Fax: (202)452-1805

Tel: (800)586-4872

Email: info@lungusa.org

Internet: http://www.lungusa.org



NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Internet: http://www.nhlbi.nih.gov/



Kids With Heart ~ National Association for Children's Heart Disorders, Inc.

1578 Careful Dr.

Green Bay, WI 54304

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.)

P.O. Box 3397

Margate City, NJ 08402-0397

Tel: (609)823-4507

Fax: (609)822-1574

Email: mb@tchin.org

Internet: http://www.tchin.org



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

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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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