Overview/Definition
Definition:
• Congenital heart disease (CHD) screening encompasses systematic evaluation methods to detect structural heart defects in asymptomatic children before clinical symptoms develop
Critical component of preventive pediatric care aimed at reducing morbidity and mortality from undiagnosed CHD through early identification and intervention.
Epidemiology:
• CHD affects 8-12 per 1000 live births in India, making it the most common birth defect
Prevalence varies by region with higher rates in certain populations due to genetic factors and environmental influences
Critical CHD (requiring intervention in first year) occurs in 2-3 per 1000 births
Early detection improves outcomes significantly.
Age Distribution:
• Pulse oximetry screening most effective in first 24-72 hours of life for critical CHD detection
Physical examination screening continues throughout childhood with focused assessment at routine well-child visits
Adolescent screening important for previously undiagnosed conditions like bicuspid aortic valve or mild coarctation.
Clinical Significance:
• High-yield topic for DNB Pediatrics and NEET SS examinations focusing on screening protocols, sensitivity/specificity of detection methods, and cost-effectiveness
Essential for understanding population health approaches, false positive rates, and integration with existing newborn screening programs
Critical for primary care pediatricians.
Age-Specific Considerations
Newborn:
• Optimal timing for pulse oximetry screening is >24 hours of age after transition circulation is established but before discharge from birth facility
Ductus arteriosus closure by 72 hours makes detection of ductal-dependent lesions critical
Pre-ductal and post-ductal saturation measurement essential for coarctation detection.
Infant:
• Ongoing surveillance during routine well-child visits for missed CHD or developing symptoms
Growth pattern assessment crucial as poor feeding and failure to thrive may indicate undiagnosed CHD
Immunization visits provide opportunity for cardiac assessment
Peak age for presentation of left-to-right shunt symptoms (2-6 months).
Child:
• School-age screening focuses on exercise tolerance assessment and murmur evaluation
Pre-participation sports physicals important for detecting conditions like hypertrophic cardiomyopathy or long QT syndrome
Blood pressure screening becomes critical for coarctation detection
Developmental milestone achievement monitoring.
Adolescent:
• Transition period screening for previously undiagnosed conditions that become symptomatic with increased activity demands
Sports participation screening mandatory in many regions
Blood pressure monitoring for bicuspid aortic valve-associated coarctation
Pregnancy counseling for females with known or suspected CHD.
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Clinical Presentation
Symptoms:
• Asymptomatic presentation is goal of screening programs before symptoms develop
Early symptoms may include poor feeding, excessive fatigue during feeds, diaphoresis with minimal exertion, frequent respiratory infections
Exercise intolerance, syncope, or chest pain in older children may indicate previously undiagnosed CHD.
Physical Signs:
• Central cyanosis (most critical finding), heart murmurs (systolic or diastolic), abnormal heart sounds (S3, S4, single S2), diminished or absent femoral pulses, blood pressure discrepancies between arms and legs
Poor weight gain, tachypnea at rest, hepatomegaly, or clubbing in older children.
Severity Assessment:
• Critical CHD: oxygen saturation <90%, severe symptoms requiring immediate intervention
Significant CHD: oxygen saturation 90-95%, moderate symptoms affecting growth or development
Mild CHD: normal saturation and growth but requires monitoring
Screening sensitivity highest for critical CHD (>95%) but lower for mild lesions.
Differential Diagnosis:
• False positive pulse oximetry may result from pulmonary pathology, persistent pulmonary hypertension, infection, or technical factors
Innocent murmurs in children are common (85% prevalence) and must be differentiated from pathological murmurs
Consider non-cardiac causes of cyanosis including respiratory or hematologic disorders.
Diagnostic Approach
History Taking:
• Detailed family history of CHD, sudden cardiac death, cardiomyopathy, or genetic syndromes
Maternal history including diabetes, medication use, infections during pregnancy
Birth history including prematurity, intrauterine growth restriction
Feeding patterns, exercise tolerance, and developmental milestone achievement assessment.
Investigations:
• Pulse oximetry screening: pre-ductal (right hand) and post-ductal (either foot) measurements
Four-limb blood pressure measurement to detect coarctation
ECG when murmur present or family history positive
Echocardiography for abnormal screening results or clinical suspicion
Chest X-ray if CHF symptoms present.
Normal Values:
• Normal pulse oximetry: ≥95% in both pre-ductal and post-ductal sites with <3% difference between sites
Normal blood pressure varies by age: neonates 65-95/45-65 mmHg, infants 70-100/50-65 mmHg, children use age-specific percentiles
Normal ECG parameters change significantly with age.
Interpretation:
• Pulse oximetry screening positive if: any saturation <90%, both measurements <95%, or >3% difference between pre-ductal and post-ductal sites
Repeat abnormal measurements after 1 hour
Consider altitude adjustments (reduce thresholds by 2% above 4000 feet)
Integration with clinical assessment crucial for interpretation.
Management/Treatment
Acute Management:
• Positive pulse oximetry screening requires urgent pediatric cardiology consultation within 24 hours
PGE infusion (0.01-0.1 mcg/kg/min) may be indicated for suspected ductal-dependent lesions while awaiting evaluation
Stabilization of CHF symptoms if present with diuretics and oxygen supplementation as needed.
Chronic Management:
• Confirmed CHD requires subspecialty cardiology management with treatment plan individualized based on specific defect and severity
Coordination with primary care for ongoing surveillance, immunization schedule modifications, and growth monitoring
Family education regarding activity restrictions and medication compliance essential.
Lifestyle Modifications:
• Activity recommendations based on specific cardiac diagnosis and functional capacity
Nutritional support important for growth optimization in children with CHD
Preventive care including appropriate immunizations, endocarditis prophylaxis when indicated, and regular dental care
Family genetic counseling for recurrence risk assessment.
Follow Up:
• Negative screening requires continued surveillance at routine well-child visits for late-presenting CHD
Positive screening with confirmed CHD requires cardiology-directed follow-up schedule
False positive screening requires reassurance and return to routine care with heightened awareness for concerning signs or symptoms.
Age-Specific Dosing
Medications:
• PGE infusion for suspected ductal-dependent lesions: starting dose 0.01-0.05 mcg/kg/min, increase to 0.1 mcg/kg/min if needed
Furosemide for CHF: 1-2 mg/kg/dose BID in infants, 1 mg/kg/dose BID in children
Digoxin loading dose: 10-15 mcg/kg in full-term infants, maintenance 5-10 mcg/kg/day divided BID.
Formulations:
• PGE (alprostadil) available as 500 mcg/mL injection requiring continuous infusion pump with precise flow control
Furosemide available as 10 mg/5 mL oral solution and 20 mg, 40 mg tablets
Digoxin pediatric elixir 50 mcg/mL preferred over tablets for accurate dosing in small children.
Safety Considerations:
• PGE requires intensive care monitoring for apnea (most common side effect), hypotension, hyperthermia, and gastric outlet obstruction
Furosemide monitoring for electrolyte imbalances (hypokalemia, hyponatremia) and dehydration
Digoxin toxicity monitoring with therapeutic levels 1-2 ng/mL in infants.
Monitoring:
• Continuous cardiorespiratory monitoring during PGE infusion with mechanical ventilation readily available
Daily electrolytes, renal function, and weights in patients receiving diuretics
Weekly digoxin levels initially, then monthly once stable
Regular growth parameter assessment in all children with CHD.
Prevention & Follow-up
Prevention Strategies:
• Primary prevention through periconceptional folic acid supplementation may reduce CHD risk
Maternal diabetes optimization during pregnancy important for preventing diabetic embryopathy-related CHD
Avoidance of teratogenic medications during critical organogenesis period (weeks 3-8 of gestation)
Genetic counseling for high-risk families.
Vaccination Considerations:
• Standard immunization schedule with modifications based on specific CHD type and surgical status
Additional influenza vaccine annually for all children with CHD
RSV prophylaxis (palivizumab) for high-risk infants with hemodynamically significant CHD during first 2 years of life
COVID-19 vaccination recommended as high-risk group.
Follow Up Schedule:
• Negative screening: routine well-child care with cardiac assessment at each visit
Positive screening confirmed CHD: cardiology-directed schedule typically every 3-6 months in infancy, annually or biannually in stable children
Emergency follow-up protocols for deterioration in clinical status or new symptoms.
Monitoring Parameters:
• Growth velocity tracking using WHO growth charts with early intervention for growth failure
Developmental milestone assessment with early intervention referral when indicated
Exercise tolerance evaluation using age-appropriate methods
Blood pressure monitoring, especially in school-age children for late-presenting coarctation.
Complications
Acute Complications:
• False positive screening results cause significant parental anxiety and healthcare costs but are necessary to maintain high sensitivity for critical CHD detection
Delayed diagnosis of CHD can result in cardiovascular collapse, metabolic acidosis, and multi-organ dysfunction requiring intensive care support.
Chronic Complications:
• Undiagnosed CHD can lead to irreversible pulmonary hypertension (Eisenmenger syndrome), heart failure, arrhythmias, and sudden cardiac death
Growth failure and developmental delays may occur in children with significant undiagnosed left-to-right shunts
Infective endocarditis risk in undiagnosed structural heart disease.
Warning Signs:
• Clinical deterioration signs include increasing cyanosis, severe feeding difficulties, failure to thrive crossing growth percentiles, new onset tachypnea or retractions at rest
Syncope, chest pain, or exercise intolerance in older children warrants urgent evaluation for previously undiagnosed CHD.
Emergency Referral:
• Immediate referral indicated for: oxygen saturation <90%, severe respiratory distress, poor perfusion or shock, suspected ductal-dependent lesion in newborn
Urgent referral (within 24 hours) for positive pulse oximetry screening, new pathological murmur, or clinical signs of CHF in infant.
Parent Education Points
Counseling Points:
• Explain screening purpose as early detection tool for heart defects that may not cause obvious symptoms initially
Emphasize that negative screening results are reassuring but continued observation important as some conditions may develop later
Discuss positive screening implications and need for subspecialty evaluation without causing excessive anxiety.
Home Care:
• Teach parents to monitor feeding patterns, growth, and activity tolerance in infants and young children
Recognize signs of CHF including rapid breathing, poor feeding, excessive sweating, or irritability
Maintain good nutrition and hydration
Ensure compliance with medication schedules if prescribed pending cardiology evaluation.
Medication Administration:
• Precise medication measurement using calibrated syringes or measuring devices essential for pediatric dosing
Timing of medications important, especially digoxin which should be given at consistent times
Recognition of medication side effects and when to contact healthcare providers
Safe storage away from children.
When To Seek Help:
• Seek immediate medical attention for: breathing difficulties, blue discoloration of lips or skin, poor feeding lasting >24 hours in infants, lethargy or decreased responsiveness
Contact pediatrician promptly for: concerns about growth or development, new or worsening symptoms, medication side effects, or missed specialist appointments.