With Monica Epelman

Classification and Definitions

• Valvar
  
  
  
  • • Variable deformity of the cusps and leaflets
    
    
    
    • – Hypoplastic: small
      
    • – Dysplastic: thickened and nodular
      
    • – Abnormal number: fusion of commissures
  
  
• Supravalvular stenosis
  
  
  
  • • Congenital narrowing of ascending aorta localized or diffuse
    
  • • Aortic dysplasia with thickening of the aortic wall resulting in an hourglass deformity
    
  • • Commonly associated with Williams syndrome, which is the result of microdeletion of chromosome 7q11.23, characterized by an elfin face, neurodevelopmental retardation, and multisystem manifestations with obstruction of major arteries to varying degrees, and often associated with hypercalcemia
  
  
• Subvalvular stenosis
  
  
  
  • • Discrete membranous thickened ridge, diaphragm, or fibromuscular tunnel
    
  • • Hypertrophic cardiomyopathy with asymmetric septal hypertrophy: with or without abnormal anterior motion of the mitral valve

Pathophysiology