Hocm Flashcards
Define hocm. Prevalence? Death
Lvh without cause wall thickness >15mm
1/500
1% year sudden dearh
Inheritance
What genes?
50 ad
30% bmhc 15% trop
50% do not know
What is a significant gradient and what dies it mean
> 30mmhg
Does not predict sudden death or correlate with prognosis
3 nonsarcomeric genes associated with cardiac hypertrophy
Prkag2, LAMP, GLA (fabrys)
Likelihood of finding a mutation in hocm
50%
How should you screen family members with hocm
H&p ECG Echo annually in adolescence or with consideration of competitive sports. After 18 perform every 5 years If athletic should perform every year.
Death in hocm
3% year
Most common cause of death in athletes
Think syncope, fh, arrhythmia, alpha troop myosin mutants
Rf for sudden death
Syncope Fh Sudden death Arrhythmias on holter Low Bp on treadmill Lv wall thickness >29mm
Sports to avoid in hocm
Basketball singles tennis, weights extreme sports
Avoid systemic training competitive sports
Most common mutant in hocm
Myh7 beta myosin
Dallas criteria
Initial?
Subsequent?
Initial
1 necrosis/degeneration or both
2. Infiltrate but no damage
3. Nothing
Subsequent
- Ongoing myocarditis
- Healing myocarditis
- Healed myocarditis
Outcomes in myocarditis
25% better
50% chronic
25% worse
Dx sarcoid
Bx proven
Extra cardiac AND 2 major
2 major and 1 minor
Major av block, thin septum, gallium , Ef<50
Minor abn EKG (vt:PVC ebb, q waves
Echo:wall motion aneurysm increased wt
Perfusion defect/Abn MRI, severe fibrosis or monocytes infiltrate
Define ppm
Hf 1 month before or 5 months after
7 rf for ppm
Age, multiparty,AA, cocaine, Htn, multiple fetus, beta agonists
Define familial cm
2 or more family members or unexplained scd <35
What are the muscular dystrophies
Duchenne md (no dystrophin) Beckett (decreased dystrophin
What chemo causes cm
Doxorubicin daunorubiin bleomyocin cyclophosphamide sunitinib trastuzumab
What antiretrovirals cause cm
Zidovudine didanosine zalcitabine
Incidence of HF with doxy
1.6% early5% late related to dose
7-28% with cyclophosphamide
3-11% belomycin
2% with herceptin(trazutinab) , 7% with packitaxol, 28% with doxorubicin
Percent of outflow tract obstruction/Sam in hocm
70% causes
Chest pain, dyspnea and fatigue
What is jet look like in Sam
Posterior jet
First line treatment of hocm
Stop vasodilators, including vasodilationg
Avoid Viagra etc..
Effect of myomectomy
Lowers mortality and scd rate
Ablation worse in patients above 65.
Drug therapy in hocm
Add disopyramide if on bb/ccb
Who should get defib
History of cardiac arrest or sustained vt icd reccomended
Fh of sudden death, lvh 30mm or recurrent syncope level 2a
Nsvt or Abn Bp response have other risk factors than 2a otherwise 2b
Otherwise
Yield of genetic testing in hocm
Around 50%
Good for hocm, not so good for dilated cm
How to screen families when index mutation not known
ECG + echo
If nothing repeat at regular intervals
Why do genetic testing
Family screening
Reccomended if dcm and conduction disease or mutation is known
Hcm family screening
Initial at age 10, repeat every 1-2 years until 20 then every 5 years stop at age 50-60
Three most common mutations in hcm
Mybpc3, myh7, tnnt2
Family screening for dcm
Age 10 q1-3 year
Age 10-20 q1-2
Age > 20 q2-5
Screening can be stopped at 50-60
Lvnc gene? Screening
Myh7. Screen every 1-3 years then every 5 years after age 20
Gene associated for restrictive cm
Arvd
Tnni 3.
Pkp2 Desmoplakin dsp dsg2 dsc2
Toxin myocarditis
Anthracycline, cocaine, interleukin,
Sulfonamides cephalosporins
Pathogenesis of myocarditis
Nk cells and macrophages
secrete il1, il2 tnf, interferon,
4 types of amyloid
Al, attr, appoA1, senile (normal transthyreitin).
Hemochromatosis
Primary or secondary (frequent transfusions)
Looks more dilated
Rx with chelation
Fabrys
Lack of galactosidase a. X linked
Define peripartum
1 month prior to 5 months after pregnancy
Diagnosing stress cm
Absence of Cath Abn
Wma beyond a single territory
Recovery of fxn
Diffuse twi
Who cant get pregnant after ppcm
If your ef dont recover don’t do it.
Difference between duchanne and Becker
No dystrophin in duchanne
Incidence of HF post chemo
Age, Htn, cad, low ef
Doxorubicin unique?
Cyclophosphamide unique
Traztumibid
Early and late effects of doxorubicin
Traztuzimab only in combine
Cyclophosphamide is dose responsive
How much doxirubicin is bad
550mg/m2
Arvd epidemiology
Screening
.2/1000 in us , higher in Italy
Repolarization abnormalities v1-v3
Mutations pkp dsg dsp
Physical activity in inherited disease
Nothing rigorous, non competitive
Can bowl, golf
How do adriamycins work
Interpolate between base pairs of DNA: inhibit synthesis
Inhibits topoisomerase 2
How to minimize cardiotoxicity of chemo
- Use low doses
- Use lysosomal formulations
- Longer infusions
- Use dexrazocxane
Percentage of patients with idcm with first degree family members with disease
20%
Define familial dcm
2 family members in a family or scd in a family member under 35
Name 3 x linked cms
Beckers
Duchannes
Danon
Define non compaction
Ratio of 2:1 non compacted to compacted myocardium
Screening in dcm
Every 1-2 until 20 then 2-5 stop at 50.
Guidelines for genetic testing in fdcm
Hocm
Dcm + conduction disease
Or known mutation
Hocm in any patients
Common sarcomeric mutations in dcm
Myh7
Tnn2
Common sarcomeric mutations in hocm
Mybpc3
Myh7
Differences in genetic testing for hocm vs dcm
Hocm 40-70% efficacy
Dcm <20%
Arvd 30-60%
What is threshold gradients in hocm for septal reduction.
How to elicit gradients?
What is a positive exercise test in hocm
> 50 peak
Exercise echo or valsalva echo. Dont need routine Cath.
SBp changes < 20.
Five 1a guidelines for hocm icd
- secondary prevention
- syncope
- fh
- Septal thickness > 30
- Nsvt 3 beats at 120bpm
- Bo either fails to go up by 20 or decreases by 20
Criteria for Arvd
60% fat Rv dysfunction Inverted t waves V1-3 Epsilon wave v1-v3 Arrhythmia Fh
2a indications for bx
HF > 3 months dilated, fails to respond to care
? Eosinophilia, Anthracyclines, restrictive, tumors, children
