CHD SYNDROMES

Question 1

Trisomy

Answer 1

Tisomy 21 (Down)
- 30% have CHD
Usually VSD and AVSD
- All offered surgery with low risk

Trisomy 18 (Edward)

• VSD
• Double outlet right ventricle
• Associated defects: Rocker bottom feet, Crossed index finger, Developmental delay

Trisomy 15 or 13 (Patau)
– VSD
- Double outlet right ventricle
Associated defects: Holprosencephaly, Midline facial cleft, Renal anomalies

Question 2

Willisam syndrome

Answer 2

7q11.23 deletion including elastin geneELN

Heart Defects

• Supravalvular aortic stenosis
• Peripheral pulmonry artery stenosis

Associated defects

• Gene abnormality onlong arm of chromosome 7
• Hypercalcaemia
• serated teeth
• Carp-Shaped mouth
• Hypertelorism
• Cocktail Party Chatter

Question 3

Noonan Syndrome

Answer 3

Genetic Defect
- PTPN11 Mutation

Heart Defect

• Hypertrophic cardiomyopathy
• Pulmonary Valve stenosis
• ASD

Associated Defects

• Almond shaped eyes and shallow orbits
• Sheid- Shaped chest, widely spaced nipples
• Short
• Can affect both males and females

Question 4

Di George Syndrome

Answer 4

Geneetic Defect
22q11.2 delectio

Heart Defect

• Tetralogy of Fallot
• Interrupted aortic arch
• Conotruncal abnormalities
• Truncus arteriosis
• Familiar VSD

Associated defects

• Triad (Only Di George if 2/3)
  
  • 1)Cleft palate
  • 2)Absent Thymus (T cells low)
  • 3)Absent parathyoids/Hypocalcaemia
• Small jaw, small head, pinched nose, hypertelorism
• Small baby, slow development
• Renal anomalies (20%)

Question 5

Alagile Syndrome

Answer 5

Genetic Defect
- jagged 1 gene (JAG1)(70%)

Heart Defect
- Peripheral pulmonary stenosis

Associated defects

• Prominant forehead, hypertelorism, depp-set eyes
• Small ponted chin
• Butterfly vertibrae
• Intrahepatic biliary hypoplasia –> Jaundice
• Embryotoxon
• Renal, growth, abnormalities of development, high pitched voice

Question 6

Turner syndrome

Answer 6

Genetic Defect
- XO

Heart Defect

• Bicuspid aorta and AS
• Coartation

Associated Defects

• Webbed Neck
• Short stature
• sheild shaped chest and wide spaced nipples
• Infertility

Question 7

Marfan syndrome

Answer 7

Genetic Defect
FBN1 gene mutation on chromosome 16 or TGFBR2 mutation

Heart Defect

• Aortic root dilatation
• Aortic regurgitation
• Mitral valve prolapse
• Mitral regurgitation

Associated Defects

• Dural ectasia
• High arched palate
• Arm span greated than height
• Hypermobility
• Lens disloction (up)
• Pectus excavatum

Question 8

VACTERL

Answer 8

Genetic Defect

• Specific, consistant genetic cause not identified
• associated with mutations FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1 TRAP1

Heart Defect

• VSD
• TOF
• Coarctation
• PDA

Associated defects

• Vertebral
• Anorectal
• Cardiac
• Tracheo-oesophageal fistula
• Renal/ radial side
• LImb abnormalities

FTT, facial asymetry, external ear malformations, genital abnormalities
Intelligence is usually normal

Question 9

Holt- Oram/ TAR

Thrombocytopenia, absent radius

Answer 9

Genetic Defect
H-O = 12q2 mutations

Heart defect
- ASD

Associated defects

• Radial aplasia
• Limb abnormalities

Question 10

CHARGE

Answer 10

Gnetic Defect

• CHD7 gene on chromosome 8
• Codes for chromatin

Heart Defect

• VSD
• TOF

Associated Defect

• Coloboma
• Heart
• Atresia chonae
• Renal
• Genital/Growth
• Ear

Question 11

Pentalogy of Cantrell

Answer 11

Heart Defect
- TOF

Associated Defect

• Absent sternum
• Absent pericardium
• Absent diafragm
• Absent heart (Ectopic on the front of chest)
• Absence of normal heart (TOF)

Question 12

Cri- du - chat

Answer 12

Genetic defect
5p

Heart defect
- VSD, ASD

Question 13

Tuberous sclerosis

Answer 13

TSC1 and TSC2 genes

Heart defect
- Cardiac rhabdomyoma

Question 14

HOCM

Answer 14

Genetic defect

-

Question 15

NF1

Answer 15

Pulmonary artery stenosis