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Genetics and Human Disease > Genetics of Congenital Heart Disease > Flashcards

Genetics of Congenital Heart Disease Flashcards

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1
Q

What is the percentage of pregnancies which end due to the baby of having a cardiac defect?

A

30%

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2
Q

Why is Congenital Heart
Disease a complex genetic disorder?

A
  • One malformation, many genes
  • One gene, many malformations
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3
Q

What is the cause of a CHD?

A
  • Significant genetic component
  • Very few genes identified
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4
Q

What kind of genes have been identifies to cause CHD?

A
  • Chromosomal defects
  • Syndromes
  • Isolated Mendelian:
  • Multi-gene interactions
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5
Q

What kinds of chromosomal defects cause CHD?

A

Downs

DiGeorge

CNV

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6
Q

What kinds of syndromes cause CHD?

A

Holt-Oram

Allagille

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7
Q

What kinds of mendelian isolated genes cause CHD?

A

Nkx2.5

Gata4

Notch2

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8
Q

What kinds of environmental causes are there for CHD?

A
  • Maternal diabetes
  • Drugs
  • Pollutants
  • Dietary deficiencies
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9
Q

What is CHD a result of?

A

Abnormalities in normal cardiac development

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10
Q

How long are human pregnancies?

A

38-40 weeks

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11
Q

When does organogenesis occur?

A

Embryogenesis

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12
Q

When does severe CHD occur?

A

First 6 weeks of pregnancy

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13
Q

When does milder versions of CHD occur?

A

6-9 weeks pregnant

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14
Q

When happens in heart development at 5 weeks?

A

The heart is practically fully formed.

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15
Q

Are genes that form and maintain the heart conseved?

A

YES

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16
Q

What kinds of chromosomal defects cause CHD?

A

Down syndrome

Turner syndrome

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17
Q

How many down syndrome suffers have CHD?

A

60%

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18
Q

Where is the critical region for Down syndrome and CHD?

A

0.96 Mb on 21q22.2

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19
Q

What genes does the critical region for Down syndrome and CHD contain?

A

DSCAM,

COL6A1

COL6A2,

KCNJ6

RCAN1

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20
Q

How often do CHDs happen when a perosn has turner syndrome?

A

60%

21
Q

Where is the CHD critical region for turner syndrome?

A

Short arm of X

22
Q

Why is CHD during turner syndrome so dangerous?

A

Global hypomethylation of genome so genes outside X also affected.

23
Q

What percentage of patients with DiGeorge syndrome have CHD?

A

50%

24
Q

What is the risk gene for CHD in DiGeorge syndrome?

A

TBX1

25
Q

What is heterotaxy?

A

A rare birth defect that involves the heart and other organs.

26
Q

How many of CHD cases are due to cilia defects?

A

60%

27
Q

What happens to the occurrence of heterotaxy when the mother has diabetes?

A

Increases 8 times.

28
Q

How many single genes causing CHD have been idetifies?

A

25

29
Q

How are genes cuasing CHD found?

A

GWAs

WES

30
Q

What was proved using WES about syndromic CHD patients?

A

They showed a large amount of de novo mutated genetics compared to their parents.

31
Q

What was proved using WES about non-syndromic CHD patients?

A

Genes were inherited from parents but the parents are unaffected.

32
Q

In the large genomic studies of CHD patients were discovered to have a large link to CHD?

A

CHD4

CDK13

PRKD1

33
Q

How to filter out CHD patients’ genthe omic data?

A
  • Familial cases
  • Replicated in multiple studies
  • Online databases prediction
  • Known role in cardiac development
  • Variant validated by in vitro assay or animal model
34
Q

What is TAA?

A

Thoracic aortic aneurism is a disease of the ascending part of aorta.

35
Q

When does TAA happen?

A

Symptomatic in children, non in adults.

Sometimes congenital.

36
Q

What is the mortality for TAA?

A

90%

37
Q

What is aortic disscetion?

A

The aorta splits during TAA.

38
Q

What kinds of genes cause TAA?

A

Components of smooth muscle cells
or connective tissue

TGFb signalling pathway

39
Q

What is BAV?

A

Abnormal leaflet formation in the heart.

40
Q

What is the incidence rate for BAV?

A

2%

41
Q

What diseases are linked to BAV?

A

TAA

Calcific valve disease

42
Q

What genes cause BAV?

A

ROBO4

43
Q

What mechanisms underpin BAV?

A

Absence of intercalating cushion.

Excess fusion of free edges.

Mispositioned cushions lead to excessive fusion of free edges.

44
Q

What is HLHS?

A

Severe CHD disease but survivable, small left ventricle so the heart doesn’t pump very hard.

45
Q

How is HLHS diagnosed?

A

Echocardiography

46
Q

What is the treatment for HLHS?

A
  • Termination of pregnancy
  • Major palliative surgery (3 ops)
  • Transplantation
47
Q

What is the issue with surgery for HLHs?

A
  • 3 operations in first five years
  • 70% survival to this stage
  • Survival beyond 40 is rare
  • Cause remains unclear
48
Q
A

Genetics and Human Disease (16 decks)

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