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Cardiomyopathies.
11.11.2014.
Michał.Marchel.MD,.PhD.
11.11.2014.
Defini=on.
A"myocardial"disorder"in"which"the"heart"muscle"
is"structurally"and"func4onally"abnormal,"in"the"
absence"of"coronary"artery"disease,"
hypertension,"valvular"disease"and"congenital"
heart"disease"sufficient"to"cause"the"observed"
myocardial"abnormality."
Ellio="P"et"al."Eur"Heart"J"2008;29:270H6""
11.11.2014.
WHO.Classifica=on.
• Unknown.cause.(primary))
! Dilated..! Hypertrophic.! Restric=ve.! unclassified.
• Specific.heart.muscle.disease.(secondary))! Infec=ve.! Metabolic.! Systemic.disease.! Heredofamilial.! Sensi=vity.! Toxic.
Br.Heart.J.1980;.44:672U673.
11.11.2014.
Ellio="P"et"al."Eur"Heart"J"2008;29:270H6""
Ellio="P"PCHF"Course"2014"
Bedside.scenario.
• Dilated Cardiomyopathy (DCM)
• Hypertrophic Cardiomyopathy (HCM)
• a.disease.of.unknown.e=ology.that.principally.affects.the.myocardium.
• LV.dilata=on.and.systolic.dysfunc=on.• pathology.
– increased.heart.size.and.weight.– ventricular.dilata=on,.normal.wall.thickness.– varying.degrees.of.myocyte.degenera=on.
Dilated.Cardiomyopathy.Defini=on.
Dilated.Cardiomyopathy.Incidence/epidemiology/prognosis.
• Most.common.type.of.cadiomyopathy.(90%.of.cardiomyopathy.cases))
• Usually.affects.those.20U60.years,.but.can.be.any.age.• 3U10.cases.per.100.000.• 20.000.new.cases.per.year.in.the.US.• death.from.progressive.pump.failure.
. .1Uyear . .25%.
. .2Uyear . .35U40%.
. .5Uyear . .40U80%.
• Four.chamber.dilata=on.of.unknown.cause..• No.ischemic.heart.disease,.hypertension,.valvular.disease.or.other.secondary.causes.
Dilated.Cardiomyopathy.Diagnos=c.criteria.
Dilated.Cardiomyopathy..History.and.Physical.Examina=on.
• Symptoms.of.heart.failure.(may.be.gradual.in.onset).
– pulmonary.conges=on.(led.HF).dyspnea.(rest,.exer=onal,.nocturnal),.orthpnea.
– systemic.conges=on.(right.HF).edema,.nausea,.abdominal.pain,.nocturia.
– low.cardiac.output.fa=gue.and.weakness.
– hypotension,.tachycardia,.tachypnea.
Dilated.Cardiomyopathy..Clinical.Features.
• Slowly.developing.CHF.• Murmurs:...
– Mitral.or.tricuspid.regurge.(insufficiency).murmurs..
• Thromboembolic.disease:.– Thrombus.forma=on.in.both.ventricles.and.atria.
– Due.to.stasis.of.blood.
Hershberger"R"et"al."Nature"Rev"Cardiol"2013"
Dilated.Cardiomyopathy..Cardiac.Imaging.
• Chest.radiogram.(XUray).• Electrocardiogram.(ECG).• 24Uhour.ambulatory.ECG.(Holter).
– palpita=on,.presyncope,.syncope.• TwoUdimensional.echocardiogram.(ECHO).• Cardiac.catheteriza=on.(coronarography).
– age.>40,.ischemic.history,.high.risk.profile,.abnormal.ECG.
Dilated.Cardiomyopathy..Clinical.Indica=ons.for.Endomyocardial.Biopsy.
• Definite.– monitoring.of.cardiac.allograd.rejec=on.– monitoring"of"anthracycline"
cardiotoxicity"
• Possible.– detec=on.and.monitoring.of.myocardi=s.– diagnosis.of.secondary.cardiomyopathies.
– differen4a4on"between"restric4ve"and"constric4ve"heart"disease"
Management.of.DCM.• limit.ac=vity.based.on.func=onal.status.• medical.therapy.
– ACE)inhibitors)– Beta7blockers)– MRA)– Angiotensin)receptor)blockers))– Digoxin)– Diure@cs)– Hydralazine)/)nitrate)combina@on))
• salt.restric=on.of.a.2Ug.Na+.(5g.NaCl).diet.• fluid.restric=on.for.significant.low.Na+.
• An=coagula=on.for.EF.<30%,.history.of.thromboemoli,.presence.of.mural.thrombi.
• Cardiac.resynchronisa=on.therapy.(CRT).• Implanted.cardioverterUdefibrylator.(ICD).• Led.ventricle.asisst.device.(LVAD).• Cardiac.transplanta=on.(HTX).
Management.of.DCM.
11.11.2014.
• Dilated.Cardiomyopathy.(DCM)..
• Hypertrophic.Cardiomyopathy.(HCM)..
.
11.11.2014.
Hypertrophic.Cardiomyopathy.
• Second.most.common.type.of.cardiomyopathy..• Prevalence.1:500.• More.than.half.the.cases.are.inherited.as.autosomal.dominant.condi=on.
• Some.cases.are.sporadic.• Symptoma=c.disease.seen.in.young.adults,.but.any.age.may.be.affected.
• A.hypertrophied.and.nonUdilated.led.ventricle.in.the.absence.of.another.disease..
• Small.LV.cavity,.asymmetrical.hypertrophy,.systolic.anterior.mo=on.of.the.mitral.valve.leaflet.(SAM).
Hypertrophic.Cardiomyopathy..• Ventricular.hypertrophy..
– Typically.asymmetric.thickening.of.just.the.septum.(different.from..symmetric.hypertrophy.seen.in.hypertensive.cardiac.hypertrophy).
– Symmetric.hypertrophy.can.be.seen.
11.11.2014.
Hypertrophic.Cardiomyopathy..• Marked.dysfunc=on..
– Hypercontrac=le.– Poorly.compliant.(with.poor.diastolic.relaxa=on).– Atrial.dilata=on.
11.11.2014.
Familial.HCM.• First.reported.by.Seidman.et.al.in.1989.• occurs..as.autosomal.dominant.in.50%.• More.that.10.different.genes.with.over.200.muta=ons.
! betaUmyosin.heavy.chain.(MYH7),.! myosin.ventricular.essen=al.light.chain.1.(MYL3),..! myosin.ventricular.regulatory.light.chain.2.(MYL2),..! cardiac..ac=n.(ACTC),.! tropomyosin.(TPM1),.! cardiac.troponin.T.(TNNT2).! cardiac.troponin.I.(TNNI3),.! cardiac.myosin.binding.protein.C.(MYBPC3).! ==n.(TTN),.! subunit.of.protein.kinase.(PRKAG2).
11.11.2014.
Ellio="P,"McKenna"WJ."Lancet"2004;363:1881–91"
Gene=cs.of.HCM.
Other.Causes.of.Hypertrophy.
• Hypertension.• Aor=c.stenosis.• Athlete’s.heart.• Clinical.mimics.
– glycogen.storage,.infants.of.diabe=c.mothers,.amyloid.• Gene=c.
– Noonan’s,.Friedreich’s.ataxia,.Familial.restric=ve.cardiomyopathy.with.disarray.
• Exaggerated.physiologic.response.– AfroUCaribbean.hypertension,.old.age.hypertrophy,.athlete’s.heart.
11.11.2014.
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
Gersh"BJ"et"al."Circula4on"2011;124:e783–e831"
65% 35%
10%
• Systole.– dynamic.ouolow.tract.gradient.
• Diastole.– impaired.diastolic.filling,.↑.filling.pressure.
• Myocardial.ischemia.– ↑.muscle.mass,.filling.pressure,.O2.demand.– ↓.vasodilator.reserve,.capillary.density.– abnormal.intramural.coronary.arteries.– systolic.compression.of.arteries.
• Led.ventricular.ouolow.obstruc=on.(present.in.25%.of.all.cases).caused.by.two.physical.barriers:.– assymetric.thickening.of.the.septum.at.the.level.of.the.anterior.leaflet.of.the.mitral.valve.
– anterior.mitral.leaflet.(“Venturi.effect”,.the.anterior.leaflet.of.the.mitral.has.paradoxical.mo=on.during.systole.(it.moves.down).
Hypertrophic.Cardiomyopathy.Pathophysiology.
• Asymptoma=c,.echocardiographic.finding.• Symptoma=c.
– dyspnea.in.90%.– angina.pectoris.in.75%.– fa=gue,.preUsyncope,.syncope.↑.risk.of.SCD.in.children.and.adolescents.
– palpita=on,.CHF,.dizziness.less.frequent.– harsh.systolic.murmur.
! Caused.by.turbulent.flow.through.the.narrowed.subUaor=c.area.
! Mitral.insufficiency.can.also.contribute.to.this.murmur,.virtually.always.present.in.these.cases.
Hypertrophic.Cardiomyopathy..Clinical.manifesta=on.
• annual.mortality.3%.in.referral.centers.probably.closer.to.1%.for.all.pa=ents.
• risk.of.SCD.higher.in.children..may.be.as.high.as.6%.per.year.majority.have.progressive.hypertrophy.
Hypertrophic.Cardiomyopathy..Natural.History.
• clinical.deteriora=on.usually.is.slow.
Hypertrophic.Cardiomyopathy..Major.complica=ons.
• Obstruc=on.– although.symptoma=c,.is.not.generally.a.major.problem.
• Atrial.fibrilla=on.– mural.thrombus,.thromboembolic.complica=ons.
• CHF.• Sudden.death.(arrhythmias).
Key.elements.in.HCM.management.
11.11.2014)
Screening)of)rela@ves:)• serial)echo)
• gene@c)tes@ng)?)
to)avoid:)• compete@ve)sports)• isometric)exercise)• volume)deple@on)
Controling)symptoms)
Assesing)the)risk)and)
preven@on)of)SCD)
Hypertrophic)Obstruc@ve)Cardiomyopathy)
Hypertrophic)Obstruc@ve)Cardiomyopathy)
Gersh"BJ"et"al."Circula4on"2011;124:e783–e831"
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
11.11.2014.
Gersh"BJ"et"al."Circula4on"2011;124:e783–e831"
Drug)therapy)for)HOCM)
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
11.11.2014.
Alcohol.abla=on..of.intraventricular.septum.in.HCM.
11.11.2014.
Gersh"BJ"et"al."Circula4on"2011;124:e783–e831"
11.11.2014.
Sudden.Cardiac.Death.
A.death.that.occurs.within..one.hour.of.the.onset.of.symptoms.
11.11.2014.
Annual.HCMUrelated.mortality.
Maron"B"et"al."Circula4on"2000"
Risk.of.SCD.in.HCM.
• Annual.incidence.of.cardiovascular.death:.1–2%.• The.main.causes.of.death:.SCD,.heart.failure.and.thromboembolism..
• SCD.is.an.infrequent.(1%),.unpredictable,.and.catastrophic.complica=on.of.HCM.
.
11.11.2014.
Ommen"SR,"Gersh"BJ."Eur"Heart"J"2009;30:2558H59"
ICD.can.save.your.pa=ent’s.life….
Primary.prophylaxis.of.SCD.
• HCM.is.the.main.cause.of.SCD.in.young.people.• Iden=fica=on.of.individuals.who.are.at.a.high.risk.of.SCD.remains.a.challenge.
• Only.a.small.subgroup.of.individuals.currently.treated.with.an.ICD.receives.poten=ally.lifesaving.shocks.(4%.a.year.in.primary.and.10%.a.year.in.secondary.preven=on).
• At.the.same.=me,.a.large.number.of.ICD.recipients.experience.inappropriate.shocks.and.implant.complica=ons.(10%.a.year).
11.11.2014.
The.dilemma.of.SCD.preven=on.
Benefit) Complica@ons)
11.11.2014.
RISK.STARTIFICATION.
Risk.of.complica=ons.ader..ICD.implanta=on.in.HCM.
• inappropriate.ICD.discharge.–.25%.• lead.complica=ons.(fracture,.dislodgment,.oversensing).–.6U13%..
• deviceUrelated.infec=on.–.4U5%..• bleeding.or.thrombosis.complica=ons.–.2U3%.• psychological.trauma.U.???.
11.11.2014.
SCD.in.HCM.–.Poten=al.pathophysiologic.substrates.and.clinical.risk.factors.
11.11.2014.Ommen"SR,"Gersh"BJ."Eur"Heart"J"2009;30:2558H59"
11.11.2014.
• Prior.cardiac.arrest.(I)..• Sustained.ventricular.tachycardia.(I).
• Family.history.of.SCD.in.1st.degree.(IIa).• LV.wall.thickness.>30mm.(IIa).• Recent.unexplained.syncopy.(IIa).• NonUsustained.ventricular.tachycardia.(IIa).• Abnormal.BP.response.(IIa).
Recommenda@on)for)ICD)[email protected]=ents.with.high.risk.of.SCD.
Maron"B,"McKenna"WJ"et"al."Eur"Heart"J"2003;24:1965–91"
11.11.2014.
Gersh"BJ"et"al."Circula4on"2011;124:e783–e831"
11.11.2014.
Recommenda@on)for)ICD)[email protected]=ents.with.high.risk.of.SCD.
Gersh"BJ"et"al."Circula4on"2011;124:e783–e831"
• Prior.cardiac.arrest.(I)..• Sustained.ventricular.tachycardia.(I).
• Family.history.of.SCD.in.1Ust.degree.(IIa).• LV.wall.thickness.>30mm.(IIa).• Recent.unexplained.syncopy.(IIa).
• NonUsustained.ventricular.tachycardia.(IIb).• Abnormal.BP.response.(IIb).
11.11.2014.
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
11.11.2014.
Preven@on)of)SCD)in)HCM)
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
*)
*)
*)
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
Risk)factors)in)primary)preven@on)
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
The.HCM.RiskUSCD.formula..
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
hSp://www.doc2do.com/hcm/webHCM.html)
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
11.11.2014.
hSp://www.doc2do.com/hcm/webHCM.html)
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
hSp://www.doc2do.com/hcm/webHCM.html)
Ellio="PM"et"al."Eur"Heart"J"2014;35:2733H79"
Future?)
11.11.2014.
Contraindica@on)for)ICD)[email protected]=al.harm.in.HCM.
• ICD.placement.as.a.rou=ne.strategy.in.pa=ents.with.HCM.without)an)indica@on)of)increased)risk)is.poten=ally.harmful.(III)...
• ICD.placement.as.a.strategy.to.permit.pa=ents.with.HCM.to)par@cipate)in)compe@@ve)athle@cs)is.poten=ally.harmful.(III)..
• ICD.placement.in.pa=ents.who.have.an.iden=fied.HCM.genotype)in)the)absence)of)clinical)[email protected]=ally.harmful.(III)..
Gersh"BJ"et"al."Circula4on"2011;124:e783–e831"