• Turner syndrome (45,X):
  • Bicuspid aortic valve (30-50% of cases)
  • Coarctation of aorta
  • Aortic root dilation
  • Left-sided heart defects
• Marfan Syndrome (FBN1 mutation):
  • Mitral valve prolapse
  • Aortic root dilation and dissection
  • Tricuspid valve prolapse
  • Dilated cardiomyopathy
• Klinefelter syndrome
  • Mitral valve prolapse

Tip

Both Marfan syndrome and Klinefelter syndrome present with MVP, tall stature, long limbs, and scoliosis.

• Down Syndrome (Trisomy 21):
  • Atrioventricular septal defects
    • Down from A to V
  • Ventricular septal defects (VSD)
  • Atrial septal defects (ASD)
  • Patent ductus arteriosus (PDA)
• DiGeorge Syndrome (22q11.2 deletion):
  • Tetralogy of Fallot
    • DiGeorge is the most complicated
  • Truncus arteriosus
  • Interrupted aortic arch
  • Ventricular septal defects
• Friedreich ataxia
  • Concentric hypertrophic cardiomyopathy