Overview/Definition
Definition:
• Turner syndrome is chromosomal disorder affecting females (45,X or mosaic patterns) with characteristic physical features and multiple system involvement
Cardiac anomalies occur in 25-50% of patients including left-sided obstructive lesions, bicuspid aortic valve, coarctation of aorta, and hypoplastic left heart syndrome.
Epidemiology:
• Turner syndrome affects 1:2500 female births with cardiac anomalies being leading cause of morbidity and mortality
Bicuspid aortic valve present in 30-50% patients
Coarctation of aorta in 10-15%
Hypoplastic left heart syndrome in 2-5%
Aortic dilatation develops in 8-42% of patients over time.
Age Distribution:
• Neonatal period: Severe cardiac lesions (hypoplastic left heart, severe coarctation) present early
Childhood: Mild-moderate lesions may be asymptomatic, detected on screening
Adolescence: Progressive aortic dilatation risk increases
Adult transition: Lifelong cardiac surveillance required.
Clinical Significance:
• Critical topic for DNB Pediatrics and NEET SS examinations focusing on cardiac screening protocols, surveillance schedules, surgical timing, and long-term management
Understanding association between karyotype and cardiac risks essential
Knowledge of growth hormone effects on cardiac structures important.
Age-Specific Considerations
Newborn:
• Neonates (0-28 days): Severe cardiac lesions may present with congestive heart failure, cyanosis
Prenatal diagnosis may reveal cardiac anomalies
Immediate echocardiographic evaluation essential
Hypoplastic left heart syndrome requires immediate intervention
Blood pressure measurement in all extremities to detect coarctation.
Infant:
• Infants (1-24 months): Feeding difficulties, poor weight gain may indicate cardiac involvement
Subtle coarctation may become apparent with growth
Regular blood pressure monitoring important
Echocardiography every 6-12 months to detect progressive lesions
Growth hormone therapy initiation requires cardiac clearance.
Child:
• Children (2-12 years): Often asymptomatic despite significant cardiac lesions
Exercise intolerance may be first symptom
Blood pressure monitoring essential for hypertension detection
Annual cardiac evaluation recommended
Growth hormone therapy monitoring for aortic root dilatation.
Adolescent:
• Adolescents (12-18 years): Progressive aortic dilatation risk increases
Hypertension more common
Exercise restrictions may be necessary
Transition planning to adult cardiology care
Pregnancy counseling important given cardiac risks
MRI imaging may be needed for complete evaluation.
Master Turner Syndrome Cardiac Care with RxDx
Access 100+ pediatric videos and expert guidance with the RxDx app
Clinical Presentation
Symptoms:
• Cardiac symptoms often absent in childhood: Exercise intolerance, shortness of breath, chest pain may develop with progressive disease
Congestive heart failure: Feeding difficulties, poor weight gain, tachypnea in infants
Hypertension symptoms: Headaches, visual changes in older children.
Physical Signs:
• Cardiac examination: Heart murmurs in 50-75% patients (systolic ejection murmur, aortic stenosis murmur)
Blood pressure: Four-limb blood pressures to detect coarctation
Peripheral pulses: Weak or delayed femoral pulses suggest coarctation
Signs of heart failure: Hepatomegaly, peripheral edema.
Severity Assessment:
• Mild cardiac involvement: Asymptomatic with normal exercise tolerance, mild valvular abnormalities
Moderate: Some exercise limitation, moderate valve dysfunction or vessel narrowing
Severe: Symptomatic at rest or with minimal activity, severe valve dysfunction, complex lesions requiring intervention.
Differential Diagnosis:
• Other causes of left-sided obstructive lesions: Williams syndrome, Shone complex
Hypertension: Essential hypertension, renal causes, endocrine causes
Aortic root dilatation: Marfan syndrome, connective tissue disorders
Acquired heart disease: Rheumatic heart disease, cardiomyopathy.
Diagnostic Approach
History Taking:
• Karyotype confirmation: 45,X versus mosaic patterns affect cardiac risk
Family history: Congenital heart disease, sudden cardiac death
Symptoms assessment: Exercise tolerance, chest pain, syncope
Growth history: Poor growth may indicate cardiac compromise
Medication history: Growth hormone therapy.
Investigations:
• Echocardiography: Complete 2D echo with Doppler assessment of all valves, aortic dimensions, coarctation evaluation
ECG: Left ventricular hypertrophy, conduction abnormalities
Cardiac MRI: Gold standard for aortic measurements, complex anatomy
24-hour Holter: If arrhythmias suspected.
Normal Values:
• Aortic root dimensions: Age and BSA-specific Z-scores, abnormal if Z-score >2
Blood pressure: Age, gender, height-specific percentiles, hypertension >95th percentile
Aortic valve: Tricuspid normal, bicuspid abnormal
Coarctation: Peak gradient >20 mmHg significant.
Interpretation:
• Echocardiographic findings: Bicuspid aortic valve, aortic root dilatation, coarctation severity assessment
MRI superior for aortic arch anatomy and precise measurements
Exercise testing: Objective assessment of functional capacity and blood pressure response.
Management/Treatment
Acute Management:
• Severe neonatal presentation: Immediate cardiology consultation, ICU management for heart failure
Coarctation repair: Balloon angioplasty or surgical repair based on anatomy
Aortic stenosis: Balloon valvuloplasty if severe
Medical management: ACE inhibitors, diuretics for heart failure.
Chronic Management:
• Regular surveillance: Echocardiography every 1-5 years based on findings
Blood pressure management: Antihypertensive medications if indicated
Exercise restrictions: Based on cardiac lesion severity and aortic dimensions
Growth hormone monitoring: Increased surveillance during therapy.
Lifestyle Modifications:
• Exercise guidelines: Avoid isometric exercise if aortic dilatation present
Contact sports restriction if severe aortic valve disease
Weight management: Maintain healthy BMI
Sodium restriction if hypertensive
Pregnancy planning: Genetic and cardiac counseling.
Follow Up:
• Surveillance schedule: Annual cardiology visits minimum, more frequent if progressive disease
Imaging schedule: Echocardiography frequency based on lesion severity
Adult transition: Transfer to adult congenital heart disease specialist by age 18-21 years.
Age-Specific Dosing
Medications:
• Antihypertensive therapy: ACE inhibitors first-line (enalapril 0.1-0.5 mg/kg/day divided bid), ARBs alternative
Beta-blockers: Propranolol 1-4 mg/kg/day for aortic root protection
Diuretics: Furosemide 1-2 mg/kg/dose for heart failure
Endocarditis prophylaxis: Amoxicillin 50 mg/kg if indicated.
Formulations:
• Enalapril: Tablets 2.5, 5, 10, 20 mg, suspension can be compounded
Propranolol: Tablets 10, 20, 40 mg, long-acting formulations available
Furosemide: Tablets 20, 40 mg, oral solution 10 mg/ml
Amoxicillin: Various strengths, suspension for children.
Safety Considerations:
• ACE inhibitor monitoring: Renal function, electrolytes, blood pressure
Beta-blocker cautions: Asthma, diabetes, monitor heart rate
Growth hormone interaction: May accelerate aortic root dilatation
Drug interactions: Multiple drug interactions possible.
Monitoring:
• Blood pressure: Home monitoring if hypertensive, target <90th percentile
Laboratory monitoring: Renal function, electrolytes with ACE inhibitors
Cardiac monitoring: Serial echocardiograms, exercise testing
Growth monitoring: Height, weight, pubertal development.
Prevention & Follow-up
Prevention Strategies:
• Primary prevention: Early detection through newborn screening, genetic counseling
Secondary prevention: Regular cardiac surveillance, blood pressure monitoring
Endocarditis prophylaxis: For high-risk cardiac lesions
Lifestyle modifications: Exercise guidelines, weight management.
Vaccination Considerations:
• Standard immunization schedule recommended
Influenza vaccine: Annual vaccination important for cardiac patients
Pneumococcal vaccine: Consider if complex cardiac disease
Live vaccines: Generally safe unless severely immunocompromised.
Follow Up Schedule:
• Frequency based on cardiac findings: Normal heart - every 5 years
Bicuspid aortic valve - every 1-2 years
Aortic dilatation - every 6-12 months
Post-surgical - every 6-12 months initially
Transition: Adult congenital cardiology by age 18-21.
Monitoring Parameters:
• Cardiac surveillance: Echocardiography, blood pressure, exercise capacity
Growth monitoring: Height velocity, pubertal development
Quality of life: Exercise tolerance, school participation
Psychosocial: Body image, peer relationships.
Complications
Acute Complications:
• Progressive aortic stenosis: May require balloon valvuloplasty or surgical intervention
Aortic dissection: Rare but catastrophic, risk increases with aortic dilatation
Congestive heart failure: May develop with progressive valve disease
Endocarditis: Risk with bicuspid aortic valve.
Chronic Complications:
• Progressive aortic root dilatation: May require surgical intervention (Bentall procedure)
Hypertension: Often develops in adolescence/adulthood
Aortic valve replacement: May be needed for severe stenosis/regurgitation
Pregnancy risks: Increased cardiac complications during pregnancy.
Warning Signs:
• Acute: Chest pain, syncope, severe shortness of breath, signs of heart failure
Progressive: Decreased exercise tolerance, new murmur, blood pressure changes
Growth hormone therapy: Rapid increase in aortic root dimensions
Emergency: Symptoms suggestive of aortic dissection.
Emergency Referral:
• Immediate cardiology consultation: New onset symptoms, suspected aortic dissection, acute heart failure
Cardiac surgery consultation: Progressive aortic stenosis, aortic root dilatation >45-50 mm
Emergency department: Chest pain, syncope, severe symptoms.
Parent Education Points
Counseling Points:
• Turner syndrome carries lifelong cardiac risks requiring regular surveillance
Many patients live normal lives with appropriate monitoring and treatment
Cardiac complications often preventable with early detection and intervention
Importance of compliance with follow-up appointments and medications.
Home Care:
• Blood pressure monitoring: Home BP checks if hypertensive, maintain log
Activity monitoring: Watch for exercise intolerance, chest pain, fatigue
Medication compliance: Importance of taking cardiac medications as prescribed
Emergency recognition: When to seek immediate medical attention.
Medication Administration:
• Antihypertensive timing: Same time daily, with or without food as directed
Missing doses: Take as soon as remembered unless close to next dose
Side effects monitoring: Dizziness, fatigue, cough with ACE inhibitors
Storage: Keep medications in original containers, check expiration dates.
When To Seek Help:
• Immediate medical attention for: Severe chest pain, difficulty breathing, syncope, palpitations
Routine contact for: New symptoms, medication side effects, blood pressure concerns
Annual appointments: Importance of keeping scheduled cardiac follow-up visits.