CV Genetics Flashcards Preview

Cardiovascular > CV Genetics > Flashcards

Flashcards in CV Genetics Deck (19):
1

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

 

increased risk of SCD

LMNA mutations

2

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

up to % will have two mutations

25% have no mutation

10% have 2

2

testing guidelines+advantages for testing for FH

risk-factor modification before osnet

statins (not responsive to monotherapy)

early screening and therapy for elevated cholesterol

 

3

genetic heterogeneity

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

4

Catecholiaminergic polymorphic V tach

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

syncope caused by exercise or acute emotion with no structural disease

4

screening for cardiomyopathy indications

asymptomatic first degree relative

at-risk relative with known mutation

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

5

Brugada syndrome

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

Presents as syncope, SIDS, or SUNDS

6

Romano wardsyndrome

E-phys ion channel abnormalities

AD inheritance with reduced penetrance and peliotropy

7

genetics of FH

autosomal dominant and recessive

homzygotes have earlier onset, severe

8

pleiotropy

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

10

treatment LQTS

Betablockers

Pacemakers

access to AEDs

ICD if resistance to medications

11

genetics for CPVT

55-65% have mutation

RYR2 - autosomal dominant

CASQ2 - autosomal recessive

13

genetic testing protocolls for LQTS

confirm in symptomatic patients

risk assessment of assymptomatic family members w/proband arrhythmia

differentation betweenheriditary+acquired

recurrance risk calculation

14

genetic testing for brugada syndrome

75% based on clincial+ECG

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

15

abnormal in long QT

repolarization 

15

Jervell and Lange Nielson Syndrome

congenital profoudn bilateral sensorineural deafness and LQTS

Autosomal recessive

17

genetics DCM

most autosomal dominant

some X-linked, AR, or mitochondrial

low frequency of involvement for any one gene

18

congenital causes of LQTS

Roamno Ward Syndrom

Jervell and Lange-Nielson syndrome

19

Genetics HCM

+3 genotype phenotype correlations

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