Congenital Heart Disease Flashcards
Which type is most common
BAV
Bicuspid aortic valve
Is it monogenic or complex
Complex but some Mendelian inheritance has been recorded eg NK x2.5 and notch2
Which stage of embryogenesis causes most severe chd
First 6 weeks when heart develops
Which sorts of environmental risk factors are there
Maternal diabetes, epileptics , vitamin A
Can chr disorders cause chd
Yes eg digeorge
Which gene links digeorge to chd eg Tof
Tbx1 loss
Which other 2 chr syndromes
Down syndrome trisomy 21
Turner syndrome loss of x
How many genes seen ocerexpressed causing chd in down syndrome and which chd
5
Avsd and vsd (issues with septum)
Which chd found linked to a region of X in turner
Coarctation of aorta and BAV
How are ciliopathies important in heart development
Work at the node to allow l r patterning via morphogens
What is heterotaxy
Where neither left or right side forms
Caused by ciliopathie
What else increases risk of heterotaxy and so chd
Maternal diabetes
How many genes on genomics england panel for known chd causes and give examples
25
Eg for tof - gata4, NK x2.5, tbx1
Are syndrome chd and isolated chd caused by same genes
No, the gene causing chd hardly ever reproducible in many types
What is TAA thoracic aortic aneurism
Disease of the ascending aorta , due to genes forming structure of smooth muscle cells or connective tissue signalling
What causes taa mortalirt
Aortic rupture
What type of signalling associated with taa
Tgfb (fr)
Are genes for BAV known
Not yet
Why is it been said diff genes cause diff BAV phenotypes (fr)
Different genes been associated to different leaflet fusion patterns
What do valves form from
Endocardial cushions
Which cell transition important in forming valves
Endothelium to mesenchymal
What is Hlhs and why is it so severe
Small left ventricle and ascending aorta
Means blood can’t be pumped to whole body properly
What does palliative surgery do for hlhs
Makes right ventricle pump to whole body instead (not effective)
Are the genes known
No
