Definition

Congenital narrowing of the pulmonary valve resulting in obstruction of right ventricular outflow.

Key Points

• Accounts for 8-10% of all congenital heart diseases
• More common in females (2:1 ratio)
• Associated with Noonan syndrome in 25-35% of cases

Pathophysiology

• Fusion of valve commissures
• Thickened valve leaflets
• Dysplastic valve tissue
• Right ventricular hypertrophy develops as compensatory mechanism

Symptoms

• Mild cases often asymptomatic
• Dyspnea on exertion
• Easy fatigability
• Chest pain
• Syncope with exercise
• Right-sided heart failure in severe cases

Physical Examination

• Systolic ejection click
• Harsh systolic ejection murmur at left upper sternal border
• Increased intensity with inspiration
• Thrill may be present
• JVD in advanced cases
• Right ventricular heave

Imaging Studies

• Echocardiography (Gold Standard):
  • Valve morphology
  • Pressure gradient measurement
  • RV size and function
• Chest X-ray:
  • Post-stenotic dilation of pulmonary artery
  • Right ventricular enlargement
  • Normal to decreased pulmonary vascularity
• ECG:
  • Right axis deviation
  • Right ventricular hypertrophy
  • Right atrial enlargement

Severity Classification (Peak Gradient)

• Mild: < 36 mmHg
• Moderate: 36-64 mmHg
• Severe: > 64 mmHg

Indications for Intervention

• Peak gradient > 40 mmHg with symptoms
• Peak gradient > 60 mmHg without symptoms
• RV dysfunction

Treatment Options

• Balloon Pulmonary Valvuloplasty:
  • First-line treatment
  • Success rate > 90%
  • Lower complications compared to surgery
• Surgical Valvuloplasty:
  • For dysplastic valves
  • Failed balloon valvuloplasty
  • Associated cardiac defects
• Valve Replacement:
  • Severe dysplasia
  • Failed previous interventions

Potential Complications

• Right ventricular failure
• Tricuspid regurgitation
• Arrhythmias
• Sudden cardiac death (rare)
• Infective endocarditis

Follow-up Protocol

• Mild PS: Every 3-5 years
• Moderate PS: Annual
• Post-intervention: 1, 6, 12 months then annually
• Exercise restrictions based on severity
• Endocarditis prophylaxis if indicated

Definition & Types

• Congenital obstruction of left ventricular outflow
• Classifications:
  • Valvular (80% of cases)
  • Subvalvular (15-20%)
  • Supravalvular (5%)

Epidemiology

• 3-6% of all congenital heart defects
• Male predominance (4:1 ratio)
• Associated with Turner syndrome, Williams syndrome
• Bicuspid aortic valve present in 1-2% of population

Pathophysiology

• Valvular:
  • Bicuspid, unicuspid, or dysplastic valve
  • Progressive calcification and stiffening
  • Reduced valve opening area
• Subvalvular:
  • Fibromuscular ridge or tunnel
  • Can be progressive
  • Often associated with VSD
• Compensatory mechanisms:
  • Left ventricular hypertrophy
  • Increased myocardial oxygen demand
  • Eventual systolic dysfunction if untreated

Age-Specific Presentations

• Neonates/Infants:
  • Poor feeding
  • Failure to thrive
  • Tachypnea
  • Diaphoresis
  • Critical AS: shock, acidosis
• Children/Adolescents:
  • Often asymptomatic
  • Exercise intolerance
  • Chest pain with exertion
  • Syncope/presyncope
  • Palpitations

Physical Examination

• Cardiac Examination:
  • Harsh crescendo-decrescendo systolic murmur
  • Best heard at right upper sternal border
  • Radiation to carotids
  • Ejection click (valvular AS)
  • Thrill in suprasternal notch
• Associated Findings:
  • Displaced/sustained apex beat
  • Decreased pulse pressure
  • Delayed carotid upstroke
  • Signs of heart failure in severe cases

Initial Evaluation

• Echocardiography (Gold Standard):
  • Valve morphology and mobility
  • Peak and mean gradients
  • Valve area calculation
  • LV size and function
  • Associated lesions
• ECG Findings:
  • Left ventricular hypertrophy
  • ST-T wave changes
  • Left atrial enlargement
  • Strain pattern in severe cases
• Chest X-ray:
  • Cardiac silhouette size
  • Post-stenotic dilation
  • Pulmonary vascularity

Advanced Imaging

• Cardiac MRI:
  • Precise anatomy
  • Flow quantification
  • LV mass assessment
• Cardiac Catheterization:
  • Pre-intervention planning
  • Direct pressure measurements
  • Coronary anatomy

Severity Classification

• Mild: Peak gradient < 40 mmHg
• Moderate: 40-70 mmHg
• Severe: > 70 mmHg
• Critical: Ductal dependent in neonates

Medical Management

• Neonates:
  • Prostaglandin E1 for ductal dependence
  • Stabilization of acidosis
  • Management of heart failure
• General Measures:
  • Endocarditis prophylaxis
  • Exercise restrictions based on severity
  • Regular monitoring

Interventional Treatment

• Balloon Valvuloplasty:
  • First-line in children
  • Better outcomes in younger patients
  • May need repeated procedures
• Surgical Options:
  • Surgical valvotomy
  • Valve repair
  • Ross procedure
  • Mechanical valve replacement

Intervention Criteria

• Peak gradient > 50 mmHg with symptoms
• Peak gradient > 60 mmHg without symptoms
• ST-T changes on ECG
• Syncope
• LV dysfunction

Potential Complications

• Early:
  • Sudden cardiac death
  • Heart failure
  • Endocarditis
  • Post-procedural AR
• Long-term:
  • Progressive valve calcification
  • Recurrent stenosis
  • Ventricular dysfunction
  • Arrhythmias

Follow-up Protocol

• Frequency:
  • Mild AS: Annual
  • Moderate AS: 6-monthly
  • Severe AS: 3-4 monthly
  • Post-intervention: 1, 3, 6, 12 months
• Monitoring:
  • Serial echocardiograms
  • Exercise testing when appropriate
  • Growth and development
  • Quality of life assessment

Definition & Types

• Congenital narrowing of the aorta, typically at/near the insertion of ductus arteriosus
• Classifications:
  • Preductal (Infantile)
  • Juxtaductal (Most common)
  • Postductal (Adult)

Epidemiology

• 5-8% of all congenital heart defects
• Male predominance (2:1)
• Associated conditions:
  • Turner syndrome (up to 35%)
  • Bicuspid aortic valve (50-85%)
  • VSD, PDA, other left-sided lesions

Pathophysiology

• Anatomical Changes:
  • Discrete narrowing vs tubular hypoplasia
  • Increased collateral circulation
  • Left ventricular pressure overload
• Hemodynamic Effects:
  • Upper body hypertension
  • Lower body hypoperfusion
  • Increased left ventricular afterload
  • Activation of renin-angiotensin system

Age-Specific Presentations

• Neonates/Early Infants:
  • Cardiogenic shock after PDA closure
  • Poor feeding
  • Tachypnea
  • Failure to thrive
  • Weak/absent femoral pulses
  • Metabolic acidosis
• Older Infants/Children:
  • Often asymptomatic
  • Exercise intolerance
  • Leg pain with exercise
  • Headaches
  • Epistaxis
  • Hypertension

Physical Examination

• Key Findings:
  • Upper/lower extremity blood pressure differential (>20 mmHg)
  • Delayed/diminished femoral pulses
  • Radio-femoral pulse delay
  • Suprasternal notch thrill
• Cardiac Examination:
  • Systolic murmur at left interscapular area
  • Continuous murmur (collaterals)
  • Left ventricular heave
  • Associated cardiac murmurs (BAV, VSD)
• Other Signs:
  • Visible collateral vessels
  • Rib notching (older children)
  • Scapular muscle wasting

Initial Evaluation

• Echocardiography:
  • Suprasternal, subcostal views
  • Doppler gradients across coarctation
  • LV size and function
  • Associated cardiac defects
  • Diastolic tail sign
• Chest X-ray:
  • Figure-3 sign
  • Rib notching (age >5 years)
  • Cardiomegaly
  • Superior mediastinal widening
• ECG:
  • Left ventricular hypertrophy
  • Strain pattern
  • Right axis deviation in infants

Advanced Imaging

• CT Angiography:
  • Detailed anatomy
  • Collateral vessels
  • Pre-surgical planning
• MRI/MRA:
  • Gold standard for follow-up
  • Flow assessment
  • Collateral quantification
  • No radiation exposure
• Cardiac Catheterization:
  • Pressure gradients
  • Intervention planning
  • Associated lesions assessment

Medical Management

• Neonates:
  • Prostaglandin E1
  • Management of heart failure
  • Correction of acidosis
• Hypertension Management:
  • Beta-blockers
  • ACE inhibitors (post-repair)
  • Regular BP monitoring

Surgical Management

• Indications:
  • Neonates/young infants
  • Long segment involvement
  • Complex arch hypoplasia
  • Associated cardiac defects
• Techniques:
  • End-to-end anastomosis
  • Extended end-to-end anastomosis
  • Subclavian flap repair
  • Patch aortoplasty

Catheter Intervention

• Indications:
  • Native CoA in older children
  • Recurrent coarctation
  • Discrete lesion
• Options:
  • Balloon angioplasty
  • Stent placement
  • Covered stents

Early Complications

• Post-operative:
  • Paradoxical hypertension
  • Spinal cord injury
  • Left recurrent laryngeal nerve injury
  • Chylothorax
• Post-catheterization:
  • Aortic wall injury
  • Aneurysm formation
  • Access site complications

Long-term Complications

• Cardiovascular:
  • Persistent hypertension
  • Recoarctation (10-20%)
  • Aortic aneurysm
  • Premature coronary artery disease
  • Berry aneurysms
• Monitoring Requirements:
  • Regular BP measurement
  • Imaging surveillance
  • Exercise testing
  • Cardiac function assessment

Follow-up Protocol

• Timing:
  • 1 week post-intervention
  • 1, 3, 6, 12 months
  • Annually thereafter
• Evaluation:
  • Four-extremity blood pressure
  • Echocardiogram
  • MRI/CT (every 2-5 years)
  • Exercise testing in older children

Definition & Types

• Anatomical Classification (Carpentier):
  • Type I: Typical Congenital MS
    • Commissural fusion
    • Short, thickened chordae
    • Normal papillary muscles
  • Type II: Hypoplastic Mitral Complex
    • Small annulus
    • Short chordae
    • Small valve leaflets
  • Type III: Supravalvar Mitral Ring
  • Type IV: Parachute Mitral Valve
    • Single papillary muscle
    • Unifocal attachment

Epidemiology

• Rare: 0.6% of congenital heart defects
• Often associated with other left heart obstructive lesions
• Part of Shone's Complex in 60-85% cases
• More common in females

Associated Conditions

• Shone's Complex components:
  • Supravalvar mitral ring
  • Parachute mitral valve
  • Subaortic stenosis
  • Coarctation of aorta
• Other associations:
  • VSD
  • ASD
  • Aortic stenosis
  • Left ventricular hypoplasia

Age-Specific Presentations

• Neonates/Young Infants:
  • Respiratory distress
  • Poor feeding
  • Failure to thrive
  • Cyanosis
  • Pulmonary edema
• Older Children:
  • Exercise intolerance
  • Recurrent respiratory infections
  • Growth delay
  • Hemoptysis (rare)

Physical Examination

• Cardiac Findings:
  • Mid-diastolic rumble at apex
  • Loud S1
  • Opening snap may be present
  • P2 accentuation
  • Right ventricular heave
• Respiratory Findings:
  • Tachypnea
  • Rales
  • Decreased breath sounds
  • Wheezing
• Growth Parameters:
  • Below expected weight/height
  • Signs of chronic illness

Primary Imaging

• Echocardiography (Gold Standard):
  • Valve morphology assessment:
    • Leaflet mobility
    • Commissural fusion
    • Chordal anatomy
    • Papillary muscle arrangement
  • Hemodynamic assessment:
    • Mean gradient
    • Mitral valve area
    • Pulmonary pressure estimation
  • Associated lesions

Additional Studies

• Chest X-ray:
  • Pulmonary venous congestion
  • Left atrial enlargement
  • Pulmonary edema
  • Cardiac silhouette
• ECG:
  • Right axis deviation
  • Right ventricular hypertrophy
  • Left atrial enlargement
  • P-mitrale
• Cardiac CT/MRI:
  • Detailed anatomy
  • Associated lesions
  • Surgical planning
• Cardiac Catheterization:
  • Pressure gradients
  • Pulmonary vascular resistance
  • Pre-operative evaluation

Severity Assessment

• Mean Gradient:
  • Mild: < 5 mmHg
  • Moderate: 5-10 mmHg
  • Severe: > 10 mmHg
• Valve Area (indexed):
  • Mild: > 1.5 cm²/m²
  • Moderate: 1.0-1.5 cm²/m²
  • Severe: < 1.0 cm²/m²

Medical Management

• Supportive Care:
  • Diuretics
  • Afterload reduction
  • Nutritional support
  • Prevention of respiratory infections
• Pulmonary Hypertension Management:
  • Sildenafil
  • Bosentan
  • Regular monitoring

Surgical Management

• Timing Considerations:
  • Symptoms severity
  • Growth failure
  • Pulmonary hypertension
  • Associated lesions
• Surgical Options:
  • Valve Repair:
    • Commissurotomy
    • Chordal splitting
    • Papillary muscle splitting
    • Supravalvar ring resection
  • Valve Replacement:
    • Mechanical valve
    • Bioprosthetic valve
    • Size considerations

Early Complications

• Post-operative:
  • Low cardiac output
  • Bleeding
  • Arrhythmias
  • Residual stenosis
• Mechanical Valve Specific:
  • Thrombosis
  • Bleeding
  • Prosthetic valve endocarditis

Long-term Complications

• Disease-related:
  • Progressive pulmonary hypertension
  • Right heart failure
  • Growth retardation
  • Arrhythmias
• Treatment-related:
  • Reoperation requirement
  • Valve dysfunction
  • Anticoagulation complications

Follow-up Protocol

• Frequency:
  • 1-2 weeks post-surgery
  • Monthly for 3 months
  • Every 3-6 months thereafter
  • More frequent if complications
• Monitoring:
  • Clinical assessment
  • Echocardiography
  • Growth parameters
  • INR monitoring (if mechanical valve)
  • Exercise testing when appropriate