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Endocardial cushion defect

Atrioventricular (AV) canal defect; Atrioventricular septal defect; AVSD; Common AV orifice; Ostium primum atrial septal defects; Congenital heart defect - ECD; Birth defect - ECD; Cyanotic disease - ECD

Endocardial cushion defect (ECD) is an abnormal heart condition. The walls separating all four chambers of the heart are poorly formed or absent. Also, the valves separating the upper and lower chambers of the heart have defects during formation. ECD is a congenital heart disease, which means it is present from birth.

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Ventricular septal defect
Atrial septal defect
Atrioventricular canal (endocardial cushion defect)

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Causes

ECD occurs while a baby is still growing in the womb. The endocardial cushions are two thicker areas that develop into the walls (septum) that divide 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 linked 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

During an exam, the health care provider will likely find signs of ECD, including:

Children with partial ECD 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 to 6 months old. Correcting an ECD may require more than one surgery.

Your child’s doctor may prescribe medicine:

The medicines will help your child gain weight and strength before surgery. Medicines 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:

Many children live normal, active lives after ECD is corrected.

Possible Complications

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.

Children with ECD may be at risk for infection of the heart (endocarditis) before and after surgery. Ask your child's doctor whether your child needs to take antibiotics before certain dental procedures.

When to Contact a Medical Professional

Call your child's provider if your child:

Also talk to the 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

Basu SK, Dobrolet NC. Congenital defects of the cardiovascular system. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 75.

Ebels T, Tretter JT, Spicer DE, Anderson RH. Antroventricular septal defects. In: Wernovsky G, Anderson RH, Kumar K, et al. Anderson's Pediatric Cardiology. 4th ed. Philadelphia, PA: Elsevier; 2020:chap 31.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Acyanotic congenital heart disease: left-to-right shunt lesions. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 453.

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Review Date: 7/7/2020  

Reviewed By: Thomas S. Metkus, MD, Assistant Professor of Medicine and Surgery, Johns Hopkins University School of Medicine, Baltimore, MD. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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