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Physiology > cardiovascular genetics > Flashcards

cardiovascular genetics Flashcards

1
Q

how many deaths are there from CV diseases a year?

A

160,000

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2
Q

how many deaths are there per year from coronary heart disease?

A

73,000

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3
Q

what are coronary heart disease deaths associated with?

A

deprivation

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4
Q

congenital heart disease?

A

12 babies diagnosed per day and more later in life

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5
Q

inherited cardiac conditions

A

12 young people under 35 die from these a week

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6
Q

causes of cardiovascular disorders

A 
sedentary lifestyle
smoking
diet
genetics - structural variation or single nucleotide variation
epigenetic variation
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7
Q

chromosomal causes of CV disorders

A

trisomy 21
turner syndrome
DiGeorge syndrome

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8
Q

downs syndrome and heart disease

A

high rate of congenital heart disease

most common = atrioventricular septal defect

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9
Q

turner syndrome and heart disease

A

high rate of congenital heart disease

left ventricular outflow tract obstruction, coarctation, aortic dissection and dilatations

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10
Q

DiGeorge syndrome and heart disease

A

congenital heart defects
teraology of fallot
transposition of the great arteries
trucus arteriosus

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11
Q

chromosome tests

A

array CGH replacing standard karyotyping

less labour intensive and greater detail

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12
Q

when are chromosome tests done?

A

when a recognised chromosomal disorder or syndrome suspected

considered when congenital heart defect present, a number of congenital defects and associated learning difficulties

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13
Q

how are cardiac conditions inherited?

A

mostly autosomal dominant

often heterogenous

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14
Q

variation in human genome can be

A

disease causing
susceptibility factor - increased risk of developing a condition
benign

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15
Q

what does monogenic mean?

A

1 base change

1 gene change

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16
Q

what is familial hypercholesterolaemia?

A 
raised cholesterol
affects 1/500 
causes premature coronary artery disease
heterogenous
to do with LDL clearance
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17
Q

how is familial hypercholesterolaemia diagnosed?

A

diagnosed primarily with clinical scores

genetic testing can help identify at-risk relatives

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18
Q

mutations involved in hypercholesterolaemia

A

LDLR
APOB
PCSK9
LDLRAP1

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19
Q

when to do gene testing?

A

when monogenic conditions are suspected

20
Q

what are the main outcomes of genetic testing?

A
  1. nil found - matches the expected sequence
  2. clear pathogenic change
  3. variant of uncertain significance - missense
21
Q

problems with gene testing

A

probabilistic

lots of uncertainty if get variant of uncertain significance

22
Q

what are the types of gene variation?

A

deletion
premature stop codon - TAG
frameshift = insertion or deletion of non-multiple of 3 number of bases
single base changes

23
Q

what are the clues to an inherited condition?

A

early onset

several affected relatives

24
Q

aortopathies

A

aortic dissection

aneurysms

25
Q

marfan syndrome

A

affects 1/5000
high risk of aortic dissection
caused by FBN1 gene

26
Q

diagnosis of Marfan syndrome

A

diagnosed primarily on clinical grounds
features overlap with other conditions associated with aortic dissection so may consider panel test to differentiate
once diagnosed need to be screened for aortic dissection so treatment can be implemented

27
Q

take home messages

A

genetic testing has limitations

not all gene changes are disease causing

28
Q

cardiomyopathies

A

due to changes in proteins that form cardiac cells - sarcomere

29
Q

prevalence of hypertrophic cardiomyopathy

A

1/500

30
Q

what is hypertrophic cardiomyopathy?

A

thickened heart muscle, not due loading

presents with sudden death

31
Q

inheritance of hypertrophic cardiomyopathy

A

most families have monogenic cause
autosomal dominant inheritance
screening for first degree relatives

32
Q

what causes hypertrophic cardiomyopathy?

A

caused by aortic stenosis

hypertension or over athletism and many genes involved

33
Q

what to consider if there is family history of sudden cardiac death or near death or inherited cardiac condition

A

family need screening

needs to be repeated as these conditions can develop over time

34
Q

age related penetrance

A

repeat family screening as not all gene changes are disease causing and as many families have unique mutations

35
Q

genetic testing in inherited cardiac conditions

A

needs to be initiated in an affected individual as it will be uncertain whether any changes found are pathogenic or not

36
Q

electrical conducting issues

A

can cause sudden cardiac death

channelopathies

37
Q

examples of electrical conducting issues

A

long QT syndrome
catecholaminergic polymorphic ventricular tachycardia
Brugada syndrome

38
Q

Mendelian cardiac disorders

A

rare

high penetrance

39
Q

multifactorial cardiac disorders

A

common
low penetrance
multifactorial -environmental and polygenic factors
many different gene loci
normal distribution
usually requires a build up of factors to cause the phenotypic expression

40
Q

what are the 2 different types of inherited cardiac disorders?

A

mendelian

multifactorial

41
Q

polygenic risk scores in clinical practice

A

can be calculated if no clear pathogenic variant in gene causing familial hypercholesterolaemia
less concern for close relatives if cause is polygenic

42
Q

what do polygenic risk scores involve?

A

analysis of a number of relatively common SNPs which each contribute to modestly raised cholesterol
those with high score - many SNPs are more likely to have a polygenic cause, not monogenic

43
Q

how do statins work?

A

inhibit rate-limiting enzyme so less cholesterol is formed in liver and increases clearance of lipids
major treatment but has side effects

44
Q

pharmacogenomics of statins

A

can cause myopathy or rhabdomyolysis
SNPs in SCLO1B1 gene are associated with risk of myopathy
if this SNP is present may use lower dose and follow up more regularly
testing for SNPs is beginning to be incorporated into routine care

45
Q

what is myopathy?

A

muscle pain

46
Q

what is rhabdomyolysis?

A

destruction of striated muscle cells

releases myoglobin which causes kidney failure

Physiology (46 decks)

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