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Flashcards in Genetics of Cardiovascular Disease Deck (83)
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1

What are the causes of congenital heart defects?

Copy number variation e.g. trisomy 21, 22q11 deletion
Single nucleotide variation - Mendelian disorders e.g. Marfans
Multifactorial - isolated CHD
Uncertain
Teratogens e.g. rubella, sodium valproate

2

Down syndrome is caused by trisomy of what chromosome?

Trisomy 21

3

What percentage of Down syndrome is due to maternal non-dysfunction, and what is this associated with?

95% maternal non-dysjunction
Associated with maternal age

4

What percentage of Down syndrome is due to translocation and what percentage is due to mosaic abnormalities?

3% translocation
2% mosaic

5

What percentage of babies with Down syndrome have atrioventricular septal defects?

15%

6

What congenital abnormalities might a baby with Down syndrome have?

Atrioventricular septal defect
Duodenal atresia
Nuchal translucency

7

Is chromosome abnormality more common in foetuses with congenital heart disease or in newborns with congenital heart disease?

More common in foetuses with congenital heart disease - 19% of foetuses with CHD will have abnormal chromosomes whereas only 13% of newborns with CHD will have abnormal chromosomes

8

What is Turner syndrome?

Condition where a female has only one normal X sex chromosome rather than 2 - 45X

9

What percentage of Turner syndrome is caused by a mosaic mutation?

30%

10

Turner syndrome is present in how many live births?

1/3000

11

What cardiovascular abnormality is seen in Turner syndrome?

Coarctation of the aorta

12

What are the features of Turner syndrome?

Short stature
Gonadal dysgenesis
Puffy hands
Neck webbing

13

What are the single gene disorder causes of neck webbing?

Turner syndrome
Noonan syndrome
CFC syndrome
Leopard syndrome
Costello syndrome

14

What is the gene affected in Noonan syndrome?

PTPN11 gene

15

What are the features of Noonan syndrome?

Short stature
Neck webbing
Cryptorchidism
Characteristic face

16

What cardiovascular abnormality is associated with Noonan syndrome?

Pulmonary stenosis

17

What are the features of cardio-facio-cutaneous syndrome?

Noonan-like appearance
Ectodermal problems
Developmental delay

18

What are the features of Leopard syndrome?

Noonan-like appearance
Multiple lentigines
Deafness

19

What are the features of Costello syndrome?

Noonan-like appearance
Thickened skin folds
Susceptibility to warts
Cardiomyopathy
Cancer risk in later life

20

What are the CATCH 22 features of 22q11 deletion syndrome)

CATCH 22

C - cardiac malformation
A - abnormal facies
T - thymic hypoplasia
C - cleft palate
H - hypoparathyroidism
22 - 22q11 deletion

21

What are the other features of 22q11 deletion syndrome?

Renal and psychiatric problems
Speech delay
Palatal dysfunction
Very variable disorder

22

When should genetic testing be done for 22q11 deletion syndrome?

If 2 or more clinical features are present

23

What percentage of 22q11 deletion syndrome is familial?

25%

24

What is the frequency of 22q11 syndrome in unselected CHD?

Around 1-2%

25

What is the relationship between psychiatric disorders and 22q11 syndrome?

Linked with schizophrenia, depression and bipolar affective disorder

26

What syndromes are encompassed by 22q11 syndrome?

DiGeorge and Shprintzen (velocardiofacial)

27

What are the features of DiGeorge syndrome?

Thymic hypoplasia
Hypoparathyroidism
Outflow tract cardiac malformation
Usually sporadic

28

What are the features of Shprintzen syndrome?

Cleft palate/palatal insufficiency
Outflow tract cardiac malformation
Characteristic face
Autosomal dominant

29

What cardiovascular abnormality is associated with Williams syndrome?

Aortic stenosis (supravalvular)

30

What are the features of Williams syndrome?

Hypercalcaemia
5th finger clinodactyly
Characteristic face
"cocktail party manner" - children will have no speech delays but conversations may not make sense/patient might not understand what you're saying