genetics

Question 1

Deletion fo 22q11.2 (TBX1)

Answer 1

DiGeorge synd

Question 2

KCNQ1

Answer 2

• long QT synd

- short QT synd

Question 3

GATA4, TBX20

Answer 3

adult-onset cardiomyopathy

Question 4

TTN (titin)

Answer 4

dilated caridiomyopathy (AD)

Question 5

tafazzin mutation

Answer 5

endocardial fibroelastosis

Question 6

Hyperactive TGF-b

Answer 6

Marfan synd and Loeys-Dietz synd

Question 7

B-MHC

Answer 7

hypertrophic cardiomyopathy

Question 8

GATA4, TBX5, NKX2-5

Answer 8

A/VSD

Question 9

JAG1, NOTCH2

Answer 9

tetralogy of Fallot

Question 10

CASQ2

Answer 10

CPVT synd

Question 11

CAV3

Answer 11

-long QT synd

Question 12

TSC1/2

Answer 12

rhabdomyoma

TS so allows myocyte grth

Question 13

RYR2

Answer 13

CPVT synd

Question 14

Leukotriene B4 metablism

Answer 14

MI in pts without aths

Question 15

MYBP-C

Answer 15

hypertrophic cardiomyopathy

Question 16

SCN1b

Answer 16

-brugada synd

Question 17

PDGFR genes

Answer 17

loeffler endomyocarditis

Question 18

mutations in cell adhesion proteins and desmosomes

Answer 18

Arrhythmogenic RV cardiomyopathy (ARVC) (AD)

Question 19

KCNH2

Answer 19

• long QT synd

- short QT synd

Question 20

NOTCH1

Answer 20

bicuspid aortic valce defect

Question 21

cTnT

Answer 21

hypertrophic cardiomyopathy

Question 22

mutations in the gene encoding the desomosome-assoc protein plakoglobin.

Answer 22

naxos synd

Question 23

a-tropomyosin

Answer 23

hypertrophic cardiomyopathy

Question 24

SCN5A

Answer 24

• long QT synd

- brugada synd

Question 25

CACANB2b

Answer 25

-brugada synd

Question 26

PRKAR1A

Answer 26

myxoma | carney complex

Question 27

GNAS1

Answer 27

myxoma | McCune-Albright synd