Endocardial cushion defect (ECD) is a congenital heart condition where the heart lacks a wall separating its chambers. Symptoms include difficulty breathing, blue skin, and pneumonia. Treatment involves surgically closing the holes and creating new valves. Without treatment, ECD can lead to heart failure and death.
An endocardial cushion defect (ECD), also known as an atrioventricular (AV) canal defect, is a congenital heart condition characterized by the lack of a wall that separates the chambers of the heart. Treatment for this condition involves surgically closing the holes between the heart chambers and may require more than one surgical procedure to complete. If left untreated, there are serious complications associated with an ECD which can include congestive heart failure and death.
A fetus can develop an endocardial cushion defect while in utero. The endocardial cushions are walls that separate the four chambers of the heart and form the tricuspid and mitral valves. When these walls fail to develop, several serious complications can develop that adversely affect lung and heart function. An endocardial cushion defect can manifest itself in two ways: partially or completely.
A partial presentation of an endocardial cushion defect occurs when there is an atrial septal defect (ASD) and one of the two heart valves develops abnormally. When a partial ECD occurs, the mitral valve is damaged, allowing blood to leak between chambers located on the left side of the heart muscle. A complete presentation of the ECD results in an ASD and a ventricular septal defect (VSD). Those diagnosed with complete ECD have a single large heart valve instead of two separate normal-sized valves.
A lack of separation between the chambers of the heart can contribute to the development of high blood pressure and inflammation within the lungs. The function of the heart becomes impaired, requiring it to work overtime, and as a result, the heart can become enlarged and weakened. Due to the adverse effects of ECD on the lungs and heart, the entire body becomes deprived of oxygen.
Babies born with an ECD can have a variety of signs and symptoms. A child who tires easily, whose skin has a bluish tinge, or who has difficulty breathing may have an endocardial cushion defect. A child who gets pneumonia frequently or is unable to gain weight may also be symptomatic. Additional signs of ECD may include a distended abdomen or extremities, increased heart rate and breathing, and loss of appetite.
Infants with a partial endocardial cushion defect who have normally formed heart valves may remain asymptomatic, meaning they have no symptoms, for several years. There are several tests used to diagnose ECD, including magnetic resonance imaging (MRI), ultrasound, and chest X-ray. Additional signs used to confirm a diagnosis of ECD may include the presence of a heart murmur and high blood pressure within the lungs.
Treatment for an ECD generally involves surgically closing the holes within the heart chambers. Valve reconstruction may also be conducted to create new mitral and tricuspid valves. The timing of corrective surgery for an ECD depends on the child’s condition and age. In most cases, surgical correction of an ECD may require more than one procedure. Ideally, the surgery should be conducted before the child’s first birthday to prevent complications from developing.
The overall prognosis associated with an endocardial cushion defect depends on the child’s overall health, the severity of his condition, and the condition of the child’s heart and lungs. With prompt and appropriate treatment, children usually make a full recovery. Complications associated with an ECD can include irreversible lung damage, congestive heart failure, and death. In some cases, the development of complications may be delayed until adulthood and may include cardiac arrhythmias and mitral valve dysfunction. To prevent future postoperative heart infections, it is recommended that children take an oral antibiotic before receiving any dental treatment or surgical procedures.
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