Endocardial cushion defect
Endocardial cushion defect (ECD) is an abnormal heart condition. The walls separating all 4 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.
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
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 4 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 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:
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.
How well your baby does depends on:
Many children live normal, active lives after 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.
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.
ECD is linked with several genetic abnormalities. Couples with a family history of ECD may wish to seek genetic counseling before becoming pregnant.
Bope ET, Kellerman RD. The cardiovascular system. In: Bope ET, Kellerman RD, eds. Conn's Current Therapy 2016. Philadelphia, PA: Elsevier; 2016:chap 7.
Kliegman RM, Stanton BF, St. Geme JW, Schor NF. Acyanotic congenital heart disease. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 426.
Kouchoukos NT, Blackstone EH, Hanley FL, Kirklin JK. Atrioventricular septal defect. In: Kouchoukos NT, Blackstone EH, Hanley FL, Kirklin JK, eds. Kirklin/Barratt-Boyes Cardiac Surgery. 4th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 34.
Robinson JD, Rigsby CK, Thakrar D. Septal defects. In: Coley BD, ed. Caffey's Pediatric Diagnostic Imaging. 12th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 73.
Review Date: 5/6/2016
Reviewed By: Scott I. Aydin, MD, Assistant Professor of Pediatrics, Albert Einstein College of Medicine, Division of Pediatric Cardiology and Critical Care Medicine, The Children's Hospital at Montefiore, Bronx, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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