Endocardial Cushion Defect: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Amol Gupta , Pediatric Cardiologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Endocardial Cushion Defect, also known as an Atrioventricular Septal Defect (AVSD) or Atrioventricular Canal Defect, is a congenital heart defect in which there are abnormalities in the walls (septa) separating the heart chambers and the atrioventricular valves. This allows oxygen-rich and oxygen-poor blood to mix, increasing blood flow to the lungs and placing extra strain on the heart.

The condition is commonly associated with Down syndrome. Symptoms may include poor feeding, rapid breathing, failure to thrive, fatigue, and heart failure in infants. Early diagnosis and timely surgical repair are essential to improve heart function, prevent complications, and support normal growth and development.

What are the Types of Endocardial Cushion Defects?

Endocardial cushion defects are generally classified into two primary types:

Complete Atrioventricular Canal Defect (CAVC): This type involves a large hole in the centre of the heart where the upper chambers (atria) and lower chambers (ventricles) meet. It results in a single, standard atrioventricular valve.
Partial Atrioventricular Canal Defect (PAVC): Here, the defect primarily affects the atrial septum or ventricular septum. It may involve two separate atrioventricular valves that might be malformed.

What are the Symptoms of Endocardial Cushion Defect?

The symptoms of endocardial cushion defect can vary, depending on the severity of the defect. However, common symptoms include:

Breathing Difficulties: Infants with ECD may exhibit rapid breathing or shortness of breath due to increased blood flow to the lungs.
Cyanosis: A bluish tint to the skin, lips, or nails may be observed due to inadequate oxygenation of blood.
Poor Growth: Failure to thrive is expected as the defect can affect the body's ability to supply nutrients efficiently.
Fatigue: Excessive tiredness, especially during feeding or exertion, can be a sign of ECD.

What are the Causes of Endocardial Cushion Defect?

The precise causes of endocardial cushion defects are not entirely understood, though several factors have been identified as contributors:

Genetic Factors: Certain genetic syndromes, such as Down syndrome, are commonly associated with ECD. These genetic abnormalities can influence heart development during fetal growth.
Environmental Factors: Factors such as maternal diabetes, alcohol consumption during pregnancy, and exposure to certain medications or infections may increase the risk of congenital heart defects, including ECD.
Chromosomal Abnormalities: Specific chromosomal abnormalities can disrupt the normal development of the heart, leading to defects in the endocardial cushions.

When to See a Doctor for Endocardial Cushion Defect?

Infants or children with rapid breathing, poor feeding, failure to gain weight, frequent respiratory infections, or heart murmurs should be evaluated promptly by a Pediatric Cardiologist.

You should see a doctor if your child has:

Difficulty feeding or poor weight gain
Rapid breathing or excessive sweating during feeds
Frequent chest infections or persistent fatigue

Seek emergency medical attention immediately if your child:

Develops severe breathing difficulty or bluish skin
Shows signs of heart failure, such as extreme lethargy or poor feeding
Becomes unresponsive or has severe respiratory distress

These symptoms may indicate serious heart complications requiring urgent medical treatment.

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How Is Endocardial Cushion Defect Diagnosed?

Diagnosing an endocardial cushion defect requires a thorough examination and the use of specific diagnostic tests:

Diagnostic Tests for Endocardial Cushion Defect

Echocardiogram: This ultrasound test provides detailed images of the heart's structure and function, helping to identify any defects in the endocardial cushions.
Electrocardiogram (ECG): An ECG records the electrical activity of the heart and can indicate abnormalities associated with ECD.
Chest X-ray: A chest X-ray can reveal the size and shape of the heart and any excess fluid in the lungs, suggesting heart issues.
Cardiac MRI: This imaging test offers a detailed view of the heart's anatomy and can further confirm the presence of structural defects.
Cardiac Catheterization: This invasive procedure involves inserting a catheter into the heart to measure pressure and oxygen levels, providing critical data for diagnosis.

What are the Treatment Options for Endocardial Cushion Defect?

The treatment of endocardial cushion defects primarily involves surgical intervention. The goal is to repair the defect and restore normal heart function. Treatment options include:

Surgical Repair

Complete Repair: This surgery involves closing the holes between the heart chambers and reconstructing the atrioventricular valves. It is typically performed in infancy or early childhood.
Staged Repair: In some cases, a staged approach is necessary, especially if the child is not strong enough for a complete repair. This involves initial procedures to manage symptoms, followed by definitive surgery later.

Medication Management

While medication cannot repair the defect, it can help manage symptoms and stabilize the patient before surgery. Common medications include:

Diuretics: These help reduce fluid accumulation in the lungs and body.
ACE Inhibitors: These medications can help lower blood pressure and reduce the workload on the heart.
Beta-Blockers: These can help regulate heart rate and improve heart function.

Post-Surgical Care

Following surgery, ongoing medical care is crucial. Regular follow-up appointments with a cardiologist, monitoring of heart function, and management of any residual symptoms are essential components of post-operative care.

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What is the Recovery Process for Endocardial Cushion Defect?

Recovery depends on the severity of the defect, the timing of surgery, and the child's overall health. Most children recover well after successful surgical repair, although lifelong follow-up with a cardiologist is essential to monitor heart function and valve performance.

Taking prescribed medications, attending regular cardiology appointments, monitoring growth and development, maintaining a heart-healthy lifestyle, and seeking prompt treatment for respiratory infections help support long-term heart health and improve quality of life.