congenital heart disease

Question 1

what are examples of copy no. of chromose variation

Answer 1

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

Question 2

what are examples of single nucleotide disorders

Answer 2

noonan, marfans, svas, holt-oran

Question 3

waht are exampesl of tertarogne gene mutaion cuases

Answer 3

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

Question 4

what chromonse is involed in downs syndorme

Answer 4

trimosy 21

Question 5

where is downs sydnreom most commonly orinate dfrom

Answer 5

materanl

Question 6

what is sseen on a downs syndorme ultra sound

Answer 6

nuchral tranlucey of over 2.5 cm

Question 7

what is a common heart condtion with down sydnome

Answer 7

atrio venticular septal defects in 15%

Question 8

what are other common condtion seen with down syndom

Answer 8

duodenal atreais - bloked bowl

Question 9

what is the effect of turner syndome

Answer 9

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

Question 10

what are some syndroem whcih cuase neck webbing

Answer 10

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

Question 11

what is the signsof noonan syndome

Answer 11

pulomary stenois , shortsatue, cryptochildism, charteris face

Question 12

what is eh effect of carido facio cutation syndoem

Answer 12

noon liek syndome, ectodermal probles, delatd developent

Question 13

what are the symptons of leopard syndome

Answer 13

noonan like, muliple leniges, deafness

Question 14

what is he symptons of costolleo sydnome

Answer 14

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

Question 15

what is the pneumic for 22q11 deletion syndome

Answer 15

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

Question 16

what are the sign of william syndome

Answer 16

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

Question 17

what gene is effected on wiliams synoe

Answer 17

deletion of elastin on chome 7

Question 18

what are the conseque of fetal alchol symde

Answer 18

Intrauterine growth restriction

Question 19

where are most congetioal heart diseas form , mother or farther

Answer 19

mother

Question 20

what chromosoem is effected by turners syndoem

Answer 20

45 x

Question 21

what is the efect of foliac acdi on heart

Answer 21

reduced occurance of vsd

Question 22

what are teh ct diseaes of the heart

Answer 22

marfans, loeys dietz, ehlers danlos ftaa

Question 23

what are some familar arrhyms tha arge geneci

Answer 23

long qt, brugada, cpvt, arvc

Question 24

what are some familary carmyohpy taht occur

Answer 24

hcm, dcm

Question 25

is marfans symome atuomsoma domiant or recessive

Answer 25

dominamt

Question 26

what gene is effecte by marphans syndome

Answer 26

chomose 15q21 - gibrillin 1 gene

Question 27

what are classical sympton of marfans

Answer 27

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

Question 28

what is the effect of fibrilin gene on tgfb

Answer 28

increase the amont of it

Question 29

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

Answer 29

losartan

Question 30

what other medciaiton are marphn pateins on

Answer 30

beta blocer,angio tehnso 2 blocerk,

Question 31

how often shoudl marfans syndome have endocardiogram

Answer 31

yearly

Question 32

when are mafans syme avile for operatoin for anyersym

Answer 32

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

Question 33

what age does sudden unexpected deaht occur

Answer 33

1 - 40 years

Question 34

what percent of suden death are inherited cardiac dise

Answer 34

40-53 %

Question 35

what other symdpmmes are like marfans

Answer 35

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

Question 36

what are the symtoms of long qt syndome

Answer 36

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

Question 37

what gene is associated with soidum ahennl abomales

Answer 37

lqt3

Question 38

what gene is assoicaed with potaalu cahneel abdomatiesa

Answer 38

lqt2 and lqt6 for ikr and lqt1 and lqt5 for iks

Question 39

what is teh effect of the kcnq1 genotype muctioan

Answer 39

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

Question 40

waht is the effect of kcnh2 muation

Answer 40

noteche decg cuased by noise/ arous suchas an alarm clock

Question 41

what is the effect of a scn5a muation

Answer 41

biphasic ecg, sleep / bardaio cuases it

Question 42

what are the signs of brugada syndome

Answer 42

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

Question 43

whta is the test for burgada syme

Answer 43

amodleine bring it on ecg cahgnes

Question 44

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

Answer 44

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

Question 45

what is the mange mtn for buruato symege

Answer 45

avoid ferve, exesive alchol, overreaction, may use icd

Question 46

what gene is effected by brugada symeon nomrally

Answer 46

scn5a

Question 47

what are the signs of arvc

Answer 47

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

Question 48

what disoredds lead to dialted caiophy

Answer 48

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

Question 49

how do diagle dilated cariomapy

Answer 49

ehchocardiogram

Question 50

what stucure is effected in hypertropic cardiomyphy sarcomet diasae

Answer 50

titan