Endocardial Cushion Defect
Introduction to Endocardial Cushion Defect
Endocardial cushion defect, also known as atrioventricular septal defect (AVSD) or atrioventricular canal defect, is a congenital heart malformation involving the central fibrous body of the heart. It encompasses a spectrum of anomalies affecting the atrial septum, ventricular septum, and atrioventricular valves.
Key points:
- Accounts for about 4-5% of all congenital heart defects
- Strong association with Down syndrome (trisomy 21)
- Can be classified into partial, transitional, and complete forms
- Results in varying degrees of intracardiac shunting and valve regurgitation
Embryology
Normal Development
- Endocardial Cushions: Form at 4-5 weeks of gestation
- Fusion: Superior and inferior cushions fuse at 5-6 weeks
- Septation: Contributes to atrial septum, ventricular septum, and AV valves
Pathogenesis
- Failure of Fusion: Primary defect in endocardial cushion development
- Genetic Factors:
- Down syndrome (40-50% of AVSD cases)
- Other chromosomal abnormalities (e.g., trisomy 13, 18)
- Single gene disorders (e.g., CRELD1 mutations)
- Environmental Factors: Maternal diabetes, alcohol exposure
Types of Defects
- Partial AVSD:
- Ostium primum atrial septal defect
- Cleft mitral valve
- Transitional AVSD:
- Ostium primum ASD
- Cleft mitral valve
- Small inlet VSD (restrictive)
- Complete AVSD:
- Large defect involving both atrial and ventricular septum
- Common AV valve
Clinical Presentation
Symptoms
- Partial AVSD:
- Often asymptomatic in infancy
- Exercise intolerance in older children/adults
- Complete AVSD:
- Failure to thrive
- Tachypnea, dyspnea
- Recurrent respiratory infections
- Congestive heart failure (2-3 months of age)
Physical Examination
- General: Dysmorphic features (if associated with Down syndrome)
- Cardiovascular:
- Hyperactive precordium
- Wide, fixed splitting of S2
- Systolic murmur at left sternal border (VSD component)
- Mid-diastolic rumble at apex (increased flow across AV valves)
- Respiratory: Tachypnea, retractions (in heart failure)
Complications
- Pulmonary Hypertension: Due to increased pulmonary blood flow
- Eisenmenger Syndrome: In untreated cases with severe pulmonary hypertension
- Arrhythmias: Atrial fibrillation, flutter in adults with unrepaired defects
- Endocarditis: Risk increases with age in unrepaired defects
Diagnosis
Imaging Studies
- Echocardiography:
- Primary diagnostic tool
- Assesses defect size, valve morphology, and function
- Evaluates chamber sizes and pulmonary pressures
- Chest X-ray:
- Cardiomegaly
- Increased pulmonary vascular markings
- Cardiac MRI:
- Complementary to echocardiography
- Useful for complex anatomy or in older patients
- Cardiac Catheterization:
- Rarely needed for diagnosis
- May be used to assess pulmonary vascular resistance
Electrocardiogram (ECG)
- Left axis deviation
- Right ventricular hypertrophy
- Prolonged PR interval (characteristic of partial AVSD)
Prenatal Diagnosis
- Fetal echocardiography can detect AVSD as early as 14-16 weeks gestation
- Indication for fetal karyotyping due to association with chromosomal abnormalities
Management
Medical Management
- Heart Failure Treatment:
- Diuretics (e.g., furosemide)
- ACE inhibitors (in select cases)
- Digoxin (controversial, less commonly used)
- Nutritional Support: High-calorie formulas, nasogastric feeding if necessary
- Infection Prevention: RSV prophylaxis, routine immunizations
Surgical Management
- Timing:
- Partial AVSD: 2-4 years of age (if asymptomatic)
- Complete AVSD: 3-6 months of age
- Surgical Techniques:
- Single or double-patch technique for septal defect closure
- AV valve repair or replacement
- Outcomes:
- Mortality: <5% in most centers
- Reoperation rate: 10-15% (mainly for left AV valve regurgitation)
Long-term Follow-up
- Regular cardiology follow-up with echocardiography
- Monitoring for residual defects, valve function, and arrhythmias
- Endocarditis prophylaxis as per current guidelines
- Counseling regarding exercise, pregnancy, and career choices
Objective QnA: Endocardial Cushion Defect
- What is another name for endocardial cushion defect?
Atrioventricular septal defect (AVSD) - Which embryonic structure fails to develop properly in endocardial cushion defects?
The endocardial cushions - What is the most common chromosomal abnormality associated with endocardial cushion defects?
Trisomy 21 (Down syndrome) - Which part of the cardiac cycle is most affected by an endocardial cushion defect?
Diastole - What is the characteristic finding on an ECG in patients with complete AVSD?
Superior QRS axis (between -30° and -150°) - Which heart valve(s) are typically affected in endocardial cushion defects?
Mitral and tricuspid valves - What is the most common type of endocardial cushion defect?
Complete AVSD - In a complete AVSD, what structure is typically absent?
The atrioventricular septum - What is the term for the single atrioventricular valve seen in complete AVSD?
Common atrioventricular valve - Which cardiac chamber typically experiences volume overload in AVSD?
The right ventricle - What is the most common presenting symptom of AVSD in infants?
Congestive heart failure - At what age do symptoms typically appear in infants with complete AVSD?
4-6 weeks of age - What is the primary goal of surgical repair for AVSD?
To separate the common AV valve into two separate valves and close the septal defects - What is the optimal age range for elective surgical repair of complete AVSD?
3-6 months of age - Which complication is more common in AVSD repair compared to other congenital heart surgeries?
Heart block - What is the most common residual lesion after AVSD repair?
Left atrioventricular valve regurgitation - How does pulmonary vascular resistance typically change in untreated AVSD over time?
It increases, potentially leading to Eisenmenger syndrome - What is the characteristic murmur heard in patients with AVSD?
Systolic ejection murmur at the left upper sternal border - Which imaging modality is considered the gold standard for diagnosing AVSD?
Echocardiography - What is the term for the incomplete form of AVSD with only an atrial component?
Ostium primum atrial septal defect - In partial AVSD, which part of the mitral valve is typically cleft?
The anterior leaflet - What is the typical appearance of the AV valve in AVSD when viewed from the ventricular apex?
A "goose-neck" deformity - Which chamber demonstrates the most significant enlargement on chest X-ray in AVSD?
The right atrium - What is the risk of developing pulmonary vascular obstructive disease by 1 year of age in untreated complete
AVSD?
Approximately 50% - Which medication is commonly used to manage symptoms of heart failure in infants with AVSD before surgery?
Furosemide (Lasix) - What is the typical location of the AV node in complete AVSD?
Posterior and inferior to the coronary sinus ostium - What is the term for the fibrous tissue between the superior and inferior bridging leaflets in AVSD?
Scooping - Which type of AVSD is more commonly associated with tetralogy of Fallot?
Complete AVSD - What is the long-term survival rate for patients with surgically repaired complete AVSD?
Approximately 90% at 10 years - Which genetic syndrome, other than Down syndrome, is associated with an increased risk of AVSD?
Ellis-van Creveld syndrome
Further Reading
- Atrioventricular Septal Defects - Comprehensive review in Circulation
- Endocardial Cushion Defects - StatPearls [Internet]
- Surgical Management of Complete Atrioventricular Septal Defects - The Annals of Thoracic Surgery
- ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease - Journal of the American College of Cardiology