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.

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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.