Genetics in Cardiology Flashcards Preview

Y2S1 CARDIO. > Genetics in Cardiology > Flashcards

Flashcards in Genetics in Cardiology Deck (19)
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1
Q

what percentage of people with Down syndrome have a heart defect

A

50%

2
Q

what are the common side effects of Down syndrome

A
  • atrioventricular septal defect
  • ventricular septal defect
  • atrial septal defect
  • patent ductus arterioles
3
Q

DSCAM and COL6A2 transgenics

A
  • Cell Migration

* Cell Adhesion

4
Q

CATCH-22

A
  • Cardiac abnormalities
  • Abnormal Facies
  • Thymic aplasia
  • Cleft palate
  • Hypothyroidism
5
Q

Cardiac abnormalities

A
  • Interruption of aortic arch
  • Tetralogy of Fallot
  • Ventricular septal defect
6
Q

tetralogy of Fallot

A

The deoxygenated blood that is returning to the heart from the body (via the superior/ inferior vena cava) is supposed to be re-oxygenated by the lungs (via the pulmonary artery). But, it is not because of the stenosis. Instead, this deoxygenated blood is re-routed back to the body (through the displaced aorta)! Alas, this deoxygenated blood cannot feed the brain the oxygen it needs, the reticular activating can’t function without proper oxygenation and thus it shuts down, resulting in syncope.

7
Q

DiGeorge Syndrome

A

22q11.2 deletion syndrome

8
Q

Why do deletions arise?

A
  • LCR-low copy repeats
  • Non allelic homologous recombination
  • Mostly de novo rearrangements but can be inherited
9
Q

Mutations in TBX1

A

Mostly new mutations. Frameshift-nonsense. Base pair substitution-missense.

10
Q

Long QT

A

udden death. Also read about hypertrophic cardiomyopathy.

11
Q

Locus heterogeneity

A

mutations in different genes cause same phenotype

12
Q

mutation sin the KCNQ1 channel - loss of function mutation

A

not enough potassium goes out of the cell therefore delayed repolarisation

13
Q

Gain of function mutation - SCN5A Na+ channel stays open

A

oo much Na+ goes into of cell ie constant depolarisation, makes it difficult to repolarise. Remember that mutations can be both loss of function OR gain ot function.

14
Q

Familial Hypercholesterolemia

A

• High concentration of serum LDL cholesterol (total cholesterol>7.5mM)

  • Xanthoma
  • Atherosclerosis
15
Q

risk in women of Familial Hypercholesterolemia

A

30% risk in women before 60 years

16
Q

risk in men of Familial Hypercholesterolemia

A

50% risk of coronary heart disease in men before 50 years

17
Q

1st degree relative

A

= parents, siblings, children

18
Q

2nd degree relative

A

grandparents, grandchildren, aunts, uncles, nephews, nieces.

19
Q

PCSK9 synthesis inhibition

A

Originally protection from RNA viruses
Dicer converts synthetic oligonucleotide into two separate strands RISC= RNA induced silencing complex
Carries short single stranded RNA recognises complementary strand of mRNA and degrades it