Cardiac genetics

Question 1

Most common inheritance and mutation in HOCM

Answer 1

AD - About 95% of cardiac conditions are AD inheritance
Mutation -cardiac myosin binding protein c gene
Cardiac beta myosin heavy gene -second most common

Question 2

Type of LQTS

Answer 2

LQTS 1 -most common, potassium channelopathy,mutations in KCNQ1( alpha su of rectifier K chl) -events during exercise
LQTS 2 - K channelopathy,Mutations in KCNH2/HERG gene-codes for IKr-events ppt by emotional arousal,exercise,loud or sudden noise
LQTS 3- Na channelopathy,Gain of function mutation in SCN5A gene.QT prolonged, events occur in sleep
Betablockers CI, needs ICD

Question 3

Which type of LQTS are beta blockers most effective in

Answer 3

LQTS 1

Question 4

Major risk factors for SCD in HOCM

Answer 4

LV thickness> 30mm,family h\o premature SCD