Atrioventricular septal defect

Atrioventricular septal defect

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. In the partial AVSD, there is a defect in the primum or inferior part of the atrial septum but no direct intraventricular communication (ostium primum defect). In the complete AVSD, there is a large ventricular component beneath either or both the superior or inferior bridging leaflets of the AV valve.

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. Forty-five percent of children with Down syndrome have congenital heart disease. Of these, 35–40% have AV septal defects.

Diagnosis

AVSDs can be detected by cardiac auscultation; they cause atypical murmurs and loud heart tones. 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.

Treatment

Treatment is surgical and involves closure of the atrial and ventricular septal defects and restoration of a competent left AV valve as far as is possible. Open surgical procedures require a heart-lung machine and are done with a median sternotomy. Percutaneous endovascular procedures are less invasive and can be done on a beating heart, but are only suitable for certain patients. Surgical mortality in experienced centers is less than 10 percent for complete defects and less than 5 percent for partial defects.

Infants born with AVSD are generally in sufficient health to not require immediate corrective surgery. If surgery is not required immediately after birth, the newborn will be closely monitored for the next several months, and the operation held-off until the first signs of lung distress or heart failure. This gives the infant time to grow, increasing the size of, and thereby the ease of operation on, the heart, as well as the ease of recovery. Infants will generally require surgery within three to six months, however, they may be able to go up to two years before the operation becomes necessary, depending on the severity of the defect.

References

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