Congenital Heart Disease

Question 1

Causes of congenital heart disease

Answer 1

Copy number variatation

• Whole chromosome (trisomy, monsomy)
• Part of chromosome (22q11deletion, Williams)

Single nucleotide variation
-Mendelian disoders (Noonan, CFC, Marfans, SVAS, Holt-Oram)

Multifactorial
-Isolated CHD

Teratogens

• Rubella
• Alcohol
• Anti-epileptics
• Maternal Diabetes mellitus

Question 2

Genetics of Down’s Syndrome

Answer 2

Trisomy 21

95% caused by maternal non-disjunction

Question 3

Pathologies associated with Down’s Syndrome

Answer 3

15% have atrio-ventricular septal defects

Duodenal atresia

Question 4

Genetics of Turner Syndrome

Answer 4

45X

Some are mosaics - those with some 46XY cells are at risk of gonadal cancers

Question 5

Features of Turner Syndrome

Answer 5

Coractation of the aorta
Short stature
Gonadal Dysgenesis
Puffy Hands
Neck Webbing

Question 6

Genetics of Noonan Syndrome

Answer 6

Defect on PTPN11 (on chromosome 12)

Autosomal dominant inheritance

Question 7

Features of Noonan Syndrome

Answer 7

Pulmonary stenosis
Short stature
Neck webbing
Cryptochodism (undescended testes)
Charcteristic face

Question 8

Features of 22q11 deletion

Answer 8

Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypoparathyroidism
22q11 deletion
(CATCH22)

renal + psychiatric (schizophrenia) problems

Question 9

Genetics of Williams syndrome

Answer 9

Deletion of a string genes from chromosome 7 (including elastin ELN)

Question 10

Features of Williams Syndrome

Answer 10

Aortic stenosis (supravalvular)
Hyperalcaemia
5th finger clinodactyly (bending)
Characteristic face
Cocktail party manner

Question 11

Features of foetal alcohol syndrome

Answer 11

Reduced growth <10th centile
Head <10th centile
Distinctive face
ADHD

Question 12

Features of foetal anticonvulsant syndromes

Answer 12

Characterist face
Malformation patterns
Developmental delay