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Endocardial cushion defect

Definition

Endocardial cushion defect (ECD) is an abnormal heart condition. The walls separating all four chambers of the heart are poorly formed or absent. It is a congenital heart disease, which means it is present from birth.

Alternative Names

Atrioventricular (AV) canal defect; Atrioventricular septal defect; AVSD

Causes

Endocardial cushion defect occurs while a baby is still growing in the womb. The endocardial cushions are two thicker areas that go on to develop into the wall (septum) that separates the four chambers of the heart. They also form the mitral and tricuspid valves. These are the valves that separate the atria (top collecting chambers) from the ventricles (bottom pumping chambers).

The lack of separation between the two sides of the heart causes several problems:

 

There are two types of ECD:

ECD is strongly linked to Down syndrome. Several gene changes are also connected to ECD. However, the exact cause of ECD is unknown.

ECD may be associated with other congenital heart defects, such as:

Symptoms

Symptoms of ECD may include:

Exams and Tests

Signs of ECD may include:

Children with partial ECD, who have only a small VSD and normal valves, may not have signs or symptoms of the disorder during childhood.

Tests to diagnose ECD include:

Treatment

Surgery is needed to close the holes between the heart chambers, and to create distinct tricuspid and mitral valves. The timing of the surgery depends on the child's condition and the severity of the ECD. It can often be done when the baby is 3 - 6 months old. Correcting an ECD may require more than one surgery.

Your doctor may prescribe medicine before surgery if the ECD has made your baby very sick. The medicines will help the child gain weight and strength before surgery. Drugs often used include:

Surgery for a complete ECD should be done in the baby's first year of life. Otherwise, lung damage that may not be able to be reversed can occur. Babies with Down syndrome tend to develop lung disease earlier. Therefore, early surgery is very important for these babies.

Outlook (Prognosis)

How well your baby does depends on the severity of the ECD, the child's overall health, and whether lung disease has already developed. Many children live normal, active lives after the ECD is corrected.

Complications from ECD may include:

Certain complications of ECD surgery may not appear until the child is an adult. These include heart rhythm problems and a leaky mitral valve.

Ask a cardiologist whether your child needs to take antibiotics before dental treatment or other procedures.

When to Contact a Medical Professional

Call your health care provider if your child:

Also talk to your health care provider if your baby is not growing or gaining weight.

Prevention

ECD is linked with several genetic abnormalities. Couples with a family history of ECD may wish to seek genetic counseling before becoming pregnant.

References

Scholz TD, Reinking BE. Congenital heart disease. In: Gleason CA, Devaskar S, eds. Avery's Diseases of the Newborn. 9th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 55.


Review Date: 5/14/2014
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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