Congenital Mitral Valve Prolapse

Congenital Heart Disease Introduction Pathophysiology Clinical Features Diagnostic Evaluation Classification & Risk Management Special Considerations Current Research

Congenital Mitral Valve Prolapse (MVP)

Definition & Epidemiology

• Characteristics:
  • Displacement of mitral valve leaflets ≥2mm above mitral annulus plane in long-axis view
  • Systolic billowing into left atrium
  • Can be isolated or part of connective tissue disorders
• Prevalence:
  • 2-3% of pediatric population
  • Higher in specific genetic syndromes
  • Female predominance in adolescence
  • Family clustering suggests genetic component

Anatomical & Genetic Basis

Structural Changes

• Valve Architecture:
  • Excess leaflet tissue
  • Myxomatous degeneration
  • Altered collagen composition
  • Glycosaminoglycan accumulation
• Supporting Structures:
  • Elongated chordae tendineae
  • Annular dilation
  • Altered papillary muscle dynamics

Genetic Associations

• Primary Genetic Conditions:
  • Marfan syndrome (FBN1 mutations)
  • Ehlers-Danlos syndrome
  • Osteogenesis imperfecta
  • MASS phenotype
• Chromosomal Abnormalities:
  • Trisomy 13, 15, 18
  • Turner syndrome
  • Down syndrome

Clinical Presentation

Symptomatology

• Common Symptoms:
  • Chest pain (atypical)
  • Palpitations
  • Exercise intolerance
  • Anxiety
  • Fatigue
  • Dizziness
• Age-Specific Presentations:
  • Infants:
    • Usually asymptomatic
    • Incidental murmur
  • Children:
    • Exercise-related symptoms
    • Growth patterns normal
  • Adolescents:
    • Increased awareness of symptoms
    • Anxiety-related manifestations

Physical Examination

• Cardiac Findings:
  • Mid-systolic click:
    • Variable timing with posture
    • May be multiple
  • Late systolic murmur:
    • Grade I-III/VI
    • Best heard at apex
    • Radiation to axilla
• Associated Features:
  • Skeletal findings:
    • Pectus excavatum
    • Scoliosis
    • Joint hypermobility
  • Body habitus:
    • Lean body build
    • Arm span/height ratio

Diagnostic Evaluation

Echocardiography

• 2D Imaging:
  • Diagnostic Criteria:
    • Superior displacement ≥2mm
    • Leaflet thickness
    • Annular dimensions
  • Views:
    • Parasternal long-axis
    • Apical four-chamber
    • 3D reconstruction when available
• Doppler Assessment:
  • Color Doppler:
    • Mitral regurgitation severity
    • Jet characteristics
  • Tissue Doppler:
    • Annular velocities
    • Diastolic function

Advanced Imaging

• Cardiac MRI:
  • Indications:
    • Complex anatomy
    • Research protocols
    • Surgical planning
  • Advantages:
    • Tissue characterization
    • 3D anatomy
    • Flow quantification

Classification & Risk Stratification

Anatomical Classification

• Barlow's Disease:
  • Excess tissue
  • Multi-segment involvement
  • Early presentation
• Fibroelastic Deficiency:
  • Thin leaflets
  • Localized prolapse
  • Later presentation

Risk Stratification

• High-Risk Features:
  • Severe regurgitation
  • Left atrial enlargement
  • LV dysfunction
  • Complex arrhythmias
  • Family history of sudden death
• Monitoring Parameters:
  • Leaflet thickness
  • Regurgitation progression
  • Ventricular function
  • Exercise tolerance

Management Approaches

Medical Management

• Asymptomatic Patients:
  • Regular monitoring
  • Risk factor modification
  • Exercise recommendations
  • Endocarditis prophylaxis (selective)
• Symptomatic Patients:
  • Beta-blockers:
    • Symptom control
    • Arrhythmia prevention
  • ACE inhibitors (selected cases)
  • Anticoagulation if indicated

Surgical Intervention

• Indications:
  • Severe symptomatic MR
  • LV dysfunction
  • LA enlargement
  • Recurrent arrhythmias
• Surgical Options:
  • Repair Techniques:
    • Resection
    • Chordal replacement
    • Annuloplasty
  • Valve Replacement:
    • Mechanical vs. tissue
    • Size considerations
    • Growth potential

Special Considerations

Athletic Participation

• Risk Assessment:
  • Degree of MR
  • Ventricular function
  • Exercise testing results
  • Arrhythmia history
• Recommendations:
  • Sport-specific guidelines
  • Intensity limitations
  • Monitoring protocols

Pregnancy

• Pre-pregnancy Counseling:
  • Risk stratification
  • Medication adjustments
  • Monitoring plan
• Management During Pregnancy:
  • Regular monitoring
  • Modified activity guidelines
  • Delivery planning

Quality of Life

• Psychosocial Support:
  • Anxiety management
  • Activity counseling
  • Family support
• Long-term Outcomes:
  • Educational achievement
  • Career planning
  • Insurance considerations

Current Research & Future Directions

Genetic Studies

• Gene Discovery:
  • Novel mutations
  • Inheritance patterns
  • Genotype-phenotype correlations
• Therapeutic Targets:
  • Molecular pathways
  • Drug development
  • Personalized medicine

Imaging Advances

• New Technologies:
  • 4D echocardiography
  • Strain imaging
  • Computational modeling

Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.