Endocardial Cushion Defect

Also known as: ECD, atrioventricular canal defect, atrioventricular septal defect.

What is endocardial cushion defect?

An endocardial cushion defect is a congenital (before birth) abnormality of the heart where the central part of the heart that normally divides it into four chambers is defective.

As the heart develops in the unborn fetus, the cushions typically develops into the walls and valves that divide the heart into four chambers (left atrium, separated from the left ventricle by the mitral valve; right atrium separated from the right ventricle by the tricuspid valve. All chambers separated by a wall of tissue called the septum). With an endocardial cushion defect, (which may be partial or complete) the walls and chambers do not fully develop, and blood can flow freely between these areas.

What causes endocardial cushion defect?

Endocardial cushion defects are commonly seen in Down Syndrome (a chromosomal abnormality), and with some gene changes, however for most, the reason they occur is not known.

What are the signs/symptoms of endocardial cushion defect?

Signs include; a big heart, heart murmur and an abnormal EKG. Symptoms may include a bluish color to the skin and lips (cyanosis), rapid heartbeat and respirations, failure of the baby to grow, sweating, swelling, frequent infections, and fatigue.

What are endocardial cushion defect care options?

Surgery is required to close the holes in the heart, and more than one surgical procedure may be required. (Medications may be needed to manage the complications of the endocardial cushion defect). 

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: July 24, 2020 04:01 PM