Congenital Heart Disease

Question 1

Which type is most common

Answer 1

BAV

Bicuspid aortic valve

Question 2

Is it monogenic or complex

Answer 2

Complex but some Mendelian inheritance has been recorded eg NK x2.5 and notch2

Question 3

Which stage of embryogenesis causes most severe chd

Answer 3

First 6 weeks when heart develops

Question 4

Which sorts of environmental risk factors are there

Answer 4

Maternal diabetes, epileptics , vitamin A

Question 5

Can chr disorders cause chd

Answer 5

Yes eg digeorge

Question 6

Which gene links digeorge to chd eg Tof

Answer 6

Tbx1 loss

Question 7

Which other 2 chr syndromes

Answer 7

Down syndrome trisomy 21

Turner syndrome loss of x

Question 8

How many genes seen ocerexpressed causing chd in down syndrome and which chd

Answer 8

5

Avsd and vsd (issues with septum)

Question 9

Which chd found linked to a region of X in turner

Answer 9

Coarctation of aorta and BAV

Question 10

How are ciliopathies important in heart development

Answer 10

Work at the node to allow l r patterning via morphogens

Question 11

What is heterotaxy

Answer 11

Where neither left or right side forms

Caused by ciliopathie

Question 12

What else increases risk of heterotaxy and so chd

Answer 12

Maternal diabetes

Question 13

How many genes on genomics england panel for known chd causes and give examples

Answer 13

25

Eg for tof - gata4, NK x2.5, tbx1

Question 14

Are syndrome chd and isolated chd caused by same genes

Answer 14

No, the gene causing chd hardly ever reproducible in many types

Question 15

What is TAA thoracic aortic aneurism

Answer 15

Disease of the ascending aorta , due to genes forming structure of smooth muscle cells or connective tissue signalling

Question 16

What causes taa mortalirt

Answer 16

Aortic rupture

Question 17

What type of signalling associated with taa

Answer 17

Tgfb (fr)

Question 18

Are genes for BAV known

Answer 18

Not yet

Question 19

Why is it been said diff genes cause diff BAV phenotypes (fr)

Answer 19

Different genes been associated to different leaflet fusion patterns

Question 20

What do valves form from

Answer 20

Endocardial cushions

Question 21

Which cell transition important in forming valves

Answer 21

Endothelium to mesenchymal

Question 22

What is Hlhs and why is it so severe

Answer 22

Small left ventricle and ascending aorta

Means blood can’t be pumped to whole body properly

Question 23

What does palliative surgery do for hlhs

Answer 23

Makes right ventricle pump to whole body instead (not effective)

Question 24

Are the genes known

Answer 24

No