Endocardial Cushion Defect also ECD; Atrioventricular (AV) canal defect; Atrioventricular septal defect; AVSD: The endocardial cushions eventually develop into the wall (septum) that separates the four chambers of the heart. They also form the mitral and tricuspid valves, the valves that separate the atria (top collecting chambers) from the ventricles (bottom pumping chambers). With Endocardial Cushion Defect, these walls do not form properly.
There are two types of ECD:
- Complete ECD: A complete ECD involves an atrial septal defect (ASD) and a ventricular septal defect (VSD) along with only one large heart valve (common AV valve) instead of two distinct valves (mitral and tricuspid).
- Partial (or incomplete) ECD: Only an ASD and VSD are present. There are two distinct valves, but one of them (the mitral valve) is often abnormal with an opening (“cleft”) in it, often letting blood leak back through the valve.
A child with ECD may experience fatigue, cyanosis (bluish tint of the skin), lack of appetite, rapid breathing or heartbeat, sweating, swollen legs or trouble breathing.
Causes: Congenital heart defects are generally caused by an error in heart development in utero. The exact cause is unknown, although could be attributed to genetic or environmental factors. Rubella or drug and alcohol use during pregnancy increase the risks that a baby will be born with CHD.
Possible complications: ECD is strongly associated with Down syndrome. ECD may also be associated with other congenital heart defects such as: Double outlet right ventricle, Single ventricle, Transposition of the great vessels or Tetralogy of Fallot.
Treatment: Surgery is needed to close the holes between the heart chambers and to separate the common valve into distinct tricuspid and mitral valves. Babies with Down syndrome tend to develop lung disease earlier, and therefore early surgery is very important for these babies. Surgery would typically be done in the first year of life before irreversible lung damage occurs; however many children who are adopted internationally may not have had surgery this young.
Prognosis: The prognosis for a child with ECD depends on the severity of the ECD, the child’s overall health, and whether lung disease has already developed. Many children with early intervention live normal, active lives after the ECD is corrected. Long-term complications, especially for those children with delayed treatment, include congestive heart failure, Eisenmenger, pulmonary hypertension, and irreversible damage to the lungs.
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