CV Genetics

Question 1

mutation associted with conduction disease, muscular dystrophy, neuropathy, lipodystrophy, Htchinson-GIlford Progeria syndrome, brachydactlyl

increased risk of SCD

Answer 1

LMNA mutations

Question 2

% of families with clinical RWS do not have a detectable gene mutation

up to % will have two mutations

Answer 2

25% have no mutation

10% have 2

Question 2

testing guidelines+advantages for testing for FH

Answer 2

risk-factor modification before osnet

statins (not responsive to monotherapy)

early screening and therapy for elevated cholesterol

Question 3

genetic heterogeneity

Answer 3

a genetic disorder canbe casued by more tha one mutation in an allele

Question 4

Catecholiaminergic polymorphic V tach

Answer 4

Distinct bidrectional/polymorphic V tach - can progress to V-fib + SCD

syncope caused by exercise or acute emotion with no structural disease

Question 4

screening for cardiomyopathy indications

Answer 4

asymptomatic first degree relative

at-risk relative with known mutation

asymptomatic at-risk FDR with no genetic testing or those with no identified mutation

Question 5

Brugada syndrome

Answer 5

cardiac conduction abnl > ST segment in righ precordial V1-V3

Presents as syncope, SIDS, or SUNDS

Question 6

Romano wardsyndrome

Answer 6

E-phys ion channel abnormalities

AD inheritance with reduced penetrance and peliotropy

Question 7

genetics of FH

Answer 7

autosomal dominant and recessive

homzygotes have earlier onset, severe

Question 8

pleiotropy

Answer 8

genetic vareints in a particular allele can cause several signs or symptoms

Question 10

treatment LQTS

Answer 10

Betablockers

Pacemakers

access to AEDs

ICD if resistance to medications

Question 11

genetics for CPVT

Answer 11

55-65% have mutation

RYR2 - autosomal dominant

CASQ2 - autosomal recessive

Question 13

genetic testing protocolls for LQTS

Answer 13

confirm in symptomatic patients

risk assessment of assymptomatic family members w/proband arrhythmia

differentation betweenheriditary+acquired

recurrance risk calculation

Question 14

genetic testing for brugada syndrome

Answer 14

75% based on clincial+ECG

25% have mutation in 16 ion channel genes (SNC5A)

Question 15

abnormal in long QT

Answer 15

repolarization

Question 15

Jervell and Lange Nielson Syndrome

Answer 15

congenital profoudn bilateral sensorineural deafness and LQTS

Autosomal recessive

Question 17

genetics DCM

Answer 17

most autosomal dominant

some X-linked, AR, or mitochondrial

low frequency of involvement for any one gene

Question 18

congenital causes of LQTS

Answer 18

Roamno Ward Syndrom

Jervell and Lange-Nielson syndrome

Question 19

Genetics HCM

+3 genotype phenotype correlations

Answer 19

Autosomal dominant

50-60% have sarcomere mutation with family history

20-30% without family history have sarcomere mutations

MYH7 - classic

MYBPC3 - later onset

TNNT2 - mild/absent LVH, risk for arrhytmia, SCD