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Atrioventricular septal defect (AVSD), previously known as “common atrioventricular canal” (CAVC) or “endocardial cushion defect”, is characterized by a deficiency of the atrioventricular septum of the heart. It is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum.
A variety of different classifications have been used, but the defects are usefully divided into “partial” and “complete” forms.
If there is a defect in the septum, it is possible for blood to travel from the left side of the heart to the right side of the heart, or the other way around. Since the right side of the heart contains venous blood with a low oxygen content, and the left side of the heart contains arterial blood with a high oxygen content, it is beneficial to prevent any communication between the two sides of the heart and prevent the blood from the two sides of the heart from mixing with each other.
This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes.[1] Forty-five percent of children with Down syndrome have congenital heart disease. Of these, 35–40% have AV septal defects.[2]
AVSDs can be detected by cardiac auscultation; they cause atypical murmurs and loud heart tones.[3] Confirmation of findings from cardiac auscultation can be obtained with a cardiac ultrasound (echocardiography – less invasive) and cardiac catheterization (more invasive).
Tentative diagnosis can also be made in utero via fetal echocardiogram. An AVSD diagnosis made before birth is a marker for Down syndrome, although other signs and further testing are required before any definitive confirmation of either can be made.
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