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Cardiovascular > congenital heart disease > Flashcards

congenital heart disease Flashcards

1
Q

what are examples of copy no. of chromose variation

A

whole chormie, triomy e.g. down, monosmy e.g. turneter
part of a chromonsome - 22q11 deletion, williams

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2
Q

what are examples of single nucleotide disorders

A

noonan, marfans, svas, holt-oran

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3
Q

waht are exampesl of tertarogne gene mutaion cuases

A

alchol,antiepile drugs e.g. sodium velperte, maternal diabets mellitus, rubella

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4
Q

what chromonse is involed in downs syndorme

A

trimosy 21

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5
Q

where is downs sydnreom most commonly orinate dfrom

A

materanl

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6
Q

what is sseen on a downs syndorme ultra sound

A

nuchral tranlucey of over 2.5 cm

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7
Q

what is a common heart condtion with down sydnome

A

atrio venticular septal defects in 15%

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8
Q

what are other common condtion seen with down syndom

A

duodenal atreais - bloked bowl

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9
Q

what is the effect of turner syndome

A

contraction of aota, shot stracutre, gonadal dysgenesi, puffy hands

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10
Q

what are some syndroem whcih cuase neck webbing

A

turners syndome, noonan syndome, cfc syndome, leopard syndrome, costello syndome

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11
Q

what is the signsof noonan syndome

A

pulomary stenois , shortsatue, cryptochildism, charteris face

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12
Q

what is eh effect of carido facio cutation syndoem

A

noon liek syndome, ectodermal probles, delatd developent

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13
Q

what are the symptons of leopard syndome

A

noonan like, muliple leniges, deafness

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14
Q

what is he symptons of costolleo sydnome

A

noonnan like, thickne of skin fold, suseptible to wounds, cariomyopy, caner risk

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15
Q

what is the pneumic for 22q11 deletion syndome

A

c – ardiac malformation
a bdnomal facie
thymic hypoplasia
c left palate
hypoparathroiysis
22q11 deletion
- renal consequesi, pyscathic conseques e.g. schitophrenai

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16
Q

what are the sign of william syndome

A

aortic stensois, hpercalcemia, 5th finer clinodacyt, charcteris face, cochal party manner

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17
Q

what gene is effected on wiliams synoe

A

deletion of elastin on chome 7

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18
Q

what are the conseque of fetal alchol symde

A

Intrauterine growth restriction

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19
Q

where are most congetioal heart diseas form , mother or farther

A

mother

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20
Q

what chromosoem is effected by turners syndoem

A

45 x

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21
Q

what is the efect of foliac acdi on heart

A

reduced occurance of vsd

22
Q

what are teh ct diseaes of the heart

A

marfans, loeys dietz, ehlers danlos ftaa

23
Q

what are some familar arrhyms tha arge geneci

A

long qt, brugada, cpvt, arvc

24
Q

what are some familary carmyohpy taht occur

A

hcm, dcm

25
Q

is marfans symome atuomsoma domiant or recessive

A

dominamt

26
Q

what gene is effecte by marphans syndome

A

chomose 15q21 - gibrillin 1 gene

27
Q

what are classical sympton of marfans

A

scholis, face/ palent, myopia, ectopic lenists, aortic dissectoin, tall statue, strekch marks

28
Q

what is the effect of fibrilin gene on tgfb

A

increase the amont of it

29
Q

what drug is used to terat marfans as it has effect on tgfb

A

losartan

30
Q

what other medciaiton are marphn pateins on

A

beta blocer,angio tehnso 2 blocerk,

31
Q

how often shoudl marfans syndome have endocardiogram

A

yearly

32
Q

when are mafans syme avile for operatoin for anyersym

A

5.5 cm , monitr carfeully if greater than 4 cm in pregnacy

33
Q

what age does sudden unexpected deaht occur

A

1 - 40 years

34
Q

what percent of suden death are inherited cardiac dise

A

40-53 %

35
Q

what other symdpmmes are like marfans

A

loeys dietz syndome - aertial dissecotn, tortuosity, bifid uvula cleft palate, hypertelorism, skin and skela findion
familary thoraci aorti anerysm -
bav / ftaa - bicuspid aorti valve or family thaoic aotic anyre
mass phenotype - myopia,mital vle orlase, mil daortic dilation, skin stretch, minor skelal ivovlemaen, fibrillopahty

36
Q

what are the symtoms of long qt syndome

A

syncope, seizures, sudden death
emotion, exercise, drugs, ecg shows prolonged qtc intervals
depolarization anomalites
paroxysml polymorphic vt

37
Q

what gene is associated with soidum ahennl abomales

A

lqt3

38
Q

what gene is assoicaed with potaalu cahneel abdomatiesa

A

lqt2 and lqt6 for ikr and lqt1 and lqt5 for iks

39
Q

what is teh effect of the kcnq1 genotype muctioan

A

noral/ broa\d ecg, cuased by exercise adn swimming in cold water

40
Q

waht is the effect of kcnh2 muation

A

noteche decg cuased by noise/ arous suchas an alarm clock

41
Q

what is the effect of a scn5a muation

A

biphasic ecg, sleep / bardaio cuases it

42
Q

what are the signs of brugada syndome

A

scd or vf/vt and type 1 brugada ecg chagnes, prolonged pr interval, enlared lv / poor renal fucoitn,

43
Q

whta is the test for burgada syme

A

amodleine bring it on ecg cahgnes

44
Q

what is seen in type 1, type 2 and type 3 brugada symeomn

A

type 1 - st elevaotni and venticluar fibril
type 2 - st elvation greater than 2mm
type 3 st elevation less than 2mm

45
Q

what is the mange mtn for buruato symege

A

avoid ferve, exesive alchol, overreaction, may use icd

46
Q

what gene is effected by brugada symeon nomrally

A

scn5a

47
Q

what are the signs of arvc

A

ehco and mri, ecg, t wae inversion, saecg late potension, effor induced vt - lbbb, hoisolgy - fatty inflation of RV , famtly hgistory

48
Q

what disoredds lead to dialted caiophy

A

mitochil disoeres e.g. diabests, deathes, retinsis, pigmenosa, skelta msule diaes

49
Q

how do diagle dilated cariomapy

A

ehchocardiogram

50
Q

what stucure is effected in hypertropic cardiomyphy sarcomet diasae

A

titan

Cardiovascular (37 decks)

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