Syndrome associations

Question 1

Down’s syndrome (trisomy 21)

Answer 1

• 30% of DS
• AVSD
• VSD

Question 2

Edwards syndrome (trisomy 18)

Answer 2

• Complex
  
  • tricuspid atresia
  • mitral atresia
  • doudle inlet left ventricle
  • common arterial trunk (truncus arteriosus)
• Occurs 60-80% cases

Question 3

Patau syndrome (trisomy 13)

Answer 3

• Complex
  
  • tricuspid atresia
  • mitral atresia
  • doudle inlet left ventricle
  • common arterial trunk (truncus arteriosus)
• Occur in 70% of PS

Question 4

Turner’s syndrome (45XO)

Answer 4

• 15% of Turners
• AVS
• coarctation of aorta

Question 5

DiGeorge syndrome: chromosome 22q11.2 deletion

Answer 5

• 80% of DG individuals
• aortic arch anomalies
• TOF
• truncus arteriosus

Question 6

Williams syndrome (7q11.23 microdeletion)

Answer 6

• 85% of WS
• supravalvular aortic stenosis
• peripheral pulmonary artery stenosis

Question 7

Noonan syndrome (PTPN11 mutation and others)

Answer 7

• hypertrophic cardiomyopathy
• ASD
• PVS
• 50% of NS

Question 8

Foetal alcohol syndrome

Answer 8

• 25% of FAS affected individuals
• ASD
• VSD
• TOF

Question 9

Marfans syndrome

Answer 9

• Aortic root dilatation, dissection of ascending aorta
• Mitral valve prolapse, calcification of the mitral valve (<40 years), dilatation of the pulmonary artery, dilatation/dissection of descending aorta