Endocardial Cushion Defect (Atrioventricular Septal Defect)

Introduction

Endocardial cushion defect (ECD), also known as atrioventricular septal defect (AVSD), is a congenital heart defect caused by improper development of the heart’s internal structures during fetal growth. These structures, called the endocardial cushions, are responsible for forming the heart’s septa (walls) and atrioventricular valves (mitral and tricuspid valves).

Types of Endocardial Cushion Defect

There are three main types of ECD: 1. Complete AVSD – A large hole across the atrial and ventricular septa, usually with a common atrioventricular valve instead of separate mitral and tricuspid valves. This is most common in infants with Down syndrome. 2. Partial AVSD – A defect between the atria (atrial septal defect) or between the ventricles (ventricular septal defect) with abnormal valve function. 3. Transitional AVSD – A smaller version of the complete defect, sometimes classified between partial and complete forms.

Symptoms

Symptoms depend on the severity of the defect and can include: - Difficulty breathing - Poor weight gain - Fatigue while feeding (in infants) - Cyanosis (bluish discoloration of lips and skin if oxygen levels are low) - Frequent respiratory infections - Heart murmur (a sound detected with a stethoscope indicating abnormal blood flow)

Causes and Risk Factors

The exact cause of ECD is unknown, but risk factors include: - Genetic conditions (e.g., Down syndrome) - Maternal diabetes - Maternal alcohol use - Certain viral infections during pregnancy (e.g., rubella)

Diagnosis

ECD is typically diagnosed through: 1. Echocardiography (ultrasound of the heart) – The most definitive imaging method. 2. Electrocardiogram (ECG) – To assess heart rhythm abnormalities. 3. Chest X-ray – To check for heart enlargement and pulmonary congestion. 4. Cardiac catheterization – If further assessment is needed before surgery.

Treatment

  1. Surgical Repair: The definitive treatment for a significant ECD. Surgery typically involves closing the septal defects and reconstructing the atrioventricular valves.
  2. Medical Management: Some mild cases may be managed with medications to control symptoms until surgery:
    • Diuretics (to reduce fluid overload)
    • ACE inhibitors (to reduce heart strain)
    • Nutritional support (for infants with feeding difficulties)

Prognosis

With timely surgical intervention, most children lead relatively normal lives. However, long-term follow-up is often required for monitoring valve function and detecting potential arrhythmias or heart failure.

Prevention

While not always preventable, certain measures can reduce the risk: - Early prenatal care - Avoiding alcohol and harmful drugs during pregnancy - Managing maternal conditions like diabetes - Genetic counseling for parents with a history of congenital heart defects.

Source recommendations

1. American Heart Association Guidelines

  1. https://professional.heart.org/en/guidelines-and-statements
  2. https://www.heart.org/
  3. https://professional.heart.org/en/guidelines-statements
  4. https://cpr.heart.org/en/resuscitation-science/cpr-and-ecc-guidelines
  5. https://www.heart.org/en/healthy-living/fitness/fitness-basics/aha-recs-for-physical-activity-in-adults

2. European Society of Cardiology Guidelines

  1. https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines
  2. https://academic.oup.com/eurheartj/article/42/34/3227/6358713
  3. https://www.escardio.org/Guidelines
  4. https://academic.oup.com/eurheartj/article/44/39/4043/7238227
  5. https://www.escardio.org/

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