Genetic diseases associated with cardiac defects
- 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
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)
- Atrioventricular septal defects
- DiGeorge Syndrome (22q11.2 deletion):
- Tetralogy of Fallot
- DiGeorge is the most complicated
- Truncus arteriosus
- Interrupted aortic arch
- Ventricular septal defects
- Tetralogy of Fallot
- Friedreich ataxia
- Concentric hypertrophic cardiomyopathy