Cardiomyopathies. - Warszawski Uniwersytet Medyczny · 2018-02-13 · 11.11.2014. Familial.HCM. •...

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)

11.11.2014.


Drug)therapy)for)HOCM)


11.11.2014.

Alcohol.abla=on..of.intraventricular.septum.in.HCM.

11.11.2014.


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.


11.11.2014.

Recommenda@on)for)ICD)[email protected]=ents.with.high.risk.of.SCD.


•  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.


11.11.2014.

Preven@on)of)SCD)in)HCM)


*)

*)

*)


Risk)factors)in)primary)preven@on)


The.HCM.RiskUSCD.formula..


hSp://www.doc2do.com/hcm/webHCM.html)


11.11.2014.



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)..


Cardiomyopathies. - Warszawski Uniwersytet Medyczny · 2018-02-13 · 11.11.2014. Familial.HCM. •...

Documents

Transcript of Cardiomyopathies. - Warszawski Uniwersytet Medyczny · 2018-02-13 · 11.11.2014. Familial.HCM. •...