Congenital Heart Disease and Genetic Heart Disease Flashcards

1
Q

what are the causes for congenital heart disease?

A
> chromosomal
> micro-deletions
> single gene
> teratogens
> multifactorial
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2
Q

name some chromosomal causes of heart disease

A

trisomies

monosomies

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3
Q

name some micro-deletions that cause congenital heart disease

A

22q11 deletion

Williams

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4
Q

what are the genetic mutations that cause downs syndrome?

A

trisomy 21:
> maternal non-disjunction
> translocation
> mosaic

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5
Q

what congenital defect is associated with downs syndrome?

A

atrio-ventricular defects

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6
Q

what is the genetic abnormality in turners syndrome?

A

45,X

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7
Q

what are the effects of turners syndrome?

A

> coarctation of the aorta
short stature
gonadal dysgenesis
puffy hands

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8
Q

what is neck webbing?

A

excess nuchal folds, a congenital skin fold that runs down the side of the neck to the shoulders.

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9
Q

what syndromes can cause neck webbing?

A
> turner syndrome
> noonan syndrome
> CFC syndrome
> leopard syndrome
> Costello syndrome
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10
Q

what does noonan syndrome cause?

A
> pulmonary stenosis
> short stature
> neck webbing
> cryptorchidism
> characteristic face
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11
Q

describe cardio-facio-cutaneous syndrome

A

it is noonan like with ectodermal problems and developmental delay

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12
Q

describe leopard syndrome?

A

it is noonan like with multiple lentigenes and deafness

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13
Q

describe Costello syndrome

A

it is noonan like with thickened skin folds, susceptibility to warts, cardiomyopathy and a later cancer risk.

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14
Q

what is the MAPK pathway?

A

mitrogen activated protein kinase pathway

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15
Q

what is the acronym for 22q11 deletion syndrome?

A
CATCH22:
Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft palate Hypoparathyroidism
22q11 deletion
(plus renal and psychiatric)
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16
Q

name two syndromes that are encompassed by 22q11 deletion syndrome

A

DiGeorge syndrome and shprintzen syndrome

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17
Q

what psychiatric problems are associated with 22q11 deletion syndrome?

A

> schizophrenic patients
depression
bipolar effective

18
Q

what causes Williams syndrome?

A

> deletion of elastin on chromosome 7
deletion of contagious genes
LIM kinase

19
Q

what does Williams syndrome cause?

A
> aortic stenosis (supravalvar)
> hypercalcemia
> 5th finger clinodactyly
> characteristic face
> cocktail party manner
20
Q

give some examples of teratogens

A

> alcohol
antiepileptic drugs
rubella
maternal diabetes mellitus

21
Q

what are the effects of foetal anticonvulsant syndromes?

A

> characteristic faces
malformation patterns
developmental delay

22
Q

name three foetal anticonvulsant syndromes

A

> valproate
phenytoin
carbamazepine

23
Q

is marfan syndrome autosomal dominant or recessive?

A

autosomal dominant

24
Q

what does marfan syndrome affect?

A

it is a multisystem syndrome and connective tissue

25
what chromosome is affected in marfan syndrome?
chromosome 15q21
26
what gene is affected in marfan syndrome?
fibrillin 1 gene
27
how do you clinically diagnose marfans syndrome?
> cardiovascular system: aortic dilatation/dissection > eyes: ectopia lentis > family history: one unequivocally affected relative
28
what is the systemic score to diagnose marfan?
more than or equal to 7
29
in marfans syndrome what test is mandatory?
echocardiography
30
when should a genetic test be carried out in a suspected index case?
when a positive result would change the diagnosis
31
name 4 marfan like syndromes
> loeys-dietz syndrome > marfan syndrome type 2 > familial thoracic aortic aneurysm > MASS phenotype
32
what drugs are given to manage marfan syndrome?
> beta blockers | > angiotensin 2 receptor blockers
33
when would prophylactic aortic surgery be used to manage someone with marfan syndrome?
if the sinus Valsalva exceeds 5.5cm or has a 5% growth per year
34
how often should people with marfans syndrome have a clinical review?
annually
35
what are the difference between mechanical valve aortic root surgery and valve sparing aortic root surgery?
the mechanical valve surgery may last longer but life long warfarin is needed. valve sparing procedure may need reoperation but no warfarin is needed.
36
what does an ECG show in Romano-ward syndrome?
a prolonged QTc interval
37
what are the affects of romano-ward syndrome?
> syncope > seizure > sudden death
38
why is genotyping useful?
it gives prognosis, lifestyle and treatment
39
what would you expect to see on an ECG from someone with Brugada syndrome?
ST elevation
40
describe the appearance of cardiac muscle in hypertrophic cardiomyopathy
there is myofibrillar disarray
41
how do you manage family if cardiac genetic abnormality is detected in an individual?
do a family history, assess the relatives and do a cascade screening of relatives
42
what is cascade screening?
> do a third generation family history > arrange ECGs for first degree relatives > screen for genetic mutations in first degree relatives