2011 ACCF/AHA Guideline for the Diagnosis and - CardioSource

45 Pages·2011·1.28 MB·English

ACCF/AHA Pocket Guideline
Adapted from the 2011 ACCF/AHA
Guideline for the
Diagnosis and
Treatment of
Hypertrophic
Cardiomyopathy
November 2011
Developed in Collaboration With the
American Association for Thoracic Surgery,
American Society of Echocardiography,
American Society of Nuclear Cardiology,
Heart Failure Society of America, Heart
Rhythm Society, Society for Cardiovascular
Angiography and Interventions, and
Society of Thoracic Surgeons
© 2011 by the American College of Cardiology Foundation and the American Heart
Association, Inc.
The following material was adapted from the 2011 ACCF/AHA Guidelines for the
Diagnosis and Treatment of Hypertrophic Cardiomyopathy (J Am Coll Cardiol
2011;XX:XX–XX). This pocket guideline is available on
the World Wide Web sites of the American College of Cardiology (www.cardiosource.
org) and the American Heart Association (my.americanheart.org).
For copies of this document, please contact Elsevier Inc. Reprint Department, e-mail:
[email protected]; phone: [phone]; fax: [phone].
Permissions: Multiple copies, modification, alteration, enhancement, and/
ordistribution of this document are not permitted without the express permission of
the American College of Cardiology Foundation. Please contact Elsevier’s permission
department at [email protected].
Contents
1. Introduction .........................................................................................3
2. Clinical Definition ................................................................................6
3. Genetic Testing Strategies/Family Screening .....................................7
4. Genotype-Positive/Phenotype-Negative Patients .............................9
5. Echocardiography ..............................................................................10
6. Stress Testing .....................................................................................14
7. Cardiac Magnetic Resonance ............................................................15
8. Detection of Concomitant Coronary Disease ...................................17
9. Asymptomatic Patients .....................................................................19
10. Pharmacologic Management ...........................................................21
11. Invasive Therapies ...........................................................................26
12. Pacing ..............................................................................................29
13. Sudden Cardiac Death Risk Stratification .....................................30
14. Selection of Patients for Implantable Cardioverter-Defibrillators ...32
15. Participation in Competitive or Recreational Sports
and Physical Activity ......................................................................36
16. Management of Atrial Fibrillation .................................................38
17. Pregnancy/Delivery ........................................................................41
2
1. Introduction
The impetus for the guidelines is based on an
appreciation of the frequency of this clinical entity
and a realization that many aspects of clinical
management, including the use of diagnostic
modalities, genetic testing, utilization of implantable
cardioverter-defibrillators (ICDs), and therapies for
refractory symptoms lack consensus. The discussion
and recommendations about the various diagnostic
modalities apply to patients with established HCM
and to a variable extent to patients with a high index
of suspicion of the disease.

Classification of Recommendations
The ACCF/AHA classifications of recommendations
and levels of evidence are utilized, and described in
more detail in Table 1.
3
Table 1. Applying ClassTifaicTbaatliebo nl1e .o Af1 R.p e pAclopympilnmyigne gnC dClaaltasisossniisffi icacanatdtio iLnoe novef olR ofe fc Eovmidmeenncdeations and Level of Evidence
Recommendations and Level of Evidence
Size of TreaT meSniTz ee foffe cTTreaT menT effecT
Class I ClCalsass sII aI ClCalsass sII bIIa ClCalsass sII II INbo Benefit Class III No Benefit
Benefit >>> Risk BeBneenfiet f>it >> >Ri>sk R isk BeBneenfeitf i>t > R>isk R isk orB Celnaefsits > II IR Hisakr m or Class III Harm
Procedure/Treatment AdPdritoicoendaul rsetu/Tdrieeas twmiethn t AdAddidtiiotinoanla slt ustduideise ws iwthit hb road AdditionatPler sostct eudduirees/ w tirteha btmroenatd tPersotc edure/ treatment
should be performed/ focsuhsoedu lodb jbeect ipveersf onremeedde/d obfjoeccutsiveeds onbejeedcetidv;e sa dndeietidoendal objectives needed; additional
administered It aIdsm rienaissteorneadble to per- reIgti sItsry r deaatas ownoaubldl bee t oh epleprfu-l Cnoor reb egIIniIse: tf rity dHNaoetltp af uwl ould BNbeoen Pehrfeoitvlpenfu l Cnoo rb eIInIe: f it HNoeltp ful BNeon Perfoitven
form procedure/administer Prfoocrmed uprreoc/Terdeuartem/aednmt inister CoPrr oIIcI:e durEexc/eTsrse Caotsmt eHnat r mful Cor III: Excess Cost Harmful
treatment mtareya btme eCnotnsIdered hamrma y be wC/oo BnesnIedfite rteo dPatients harm w/o Benefit to Patients
or Harmful or Harmful
ecT level a ecT n Rleecvoemlm aendation that n Rne Rceocmommemnednadtiaotnio inn tfhaavto r n nR eRceocmommmenednadtaiotnio’ns in favor n nR eRceocmommmenednadtaiotnio nth’sa t n Recommendation that
enT eff Mevualltuipaltee dp*o pulations enT eff npisr oSuMecusveeufafdfliltucuuiplirae/elteene fo tdfp ree*o cvt prtieiudvaleeatntmicoeen nsftr o m nobfe Snpiitsnrro egoSuma cusuteeefmsfd fiecucueoflirnue/netlenf /lfooteif crrefe ftcpvteirntirceidgovtaei cevetnemevcdieeud nrefetrn o cme nuws enobGelfe lfr S uiteenrolaesngmttae eautesrbmss lecci/esoofenuhnnftlfeff /illocdeiiccra f fttcpeiinnyrcgg otli cev eesevdsi ud reen ce pnborenuwo ts hc euGeaelslfrrd ueemeulfasnurftetuelea/ lsero bs frlcfi/ esoterchnfeftefiialcdvitcae mtc iaenynng ldt e ismss a y pnboreo t hcuaesrdemufurfeul/ leo frf etrcetiavtem aenndt ims a y
m Data derived from multiple m muDltaiptale drearnivdeodm firzoemd tmriaullsti p le frommu lmtipulleti prlaen rdaonmdiozmediz terdia ls evfirdoemn cme uflrtoipmle m raunltdipolme i zed n eSvuifdfeicniceen tf reovmid emnuclet ipfrloem n Sufficient evidence from
aT randomized clinical trials aT or mraentdao-manizaelyds celsinical trials triaolrs m oer tma-eatnaa-alynsaelsyses ratnrdiaolms oizre md etrtiaa-las noarl y ses mrualtnipdloem riazneddo tmriaizlesd o trr i als or multiple randomized trials or
re or meta-analyses re or meta-analyses meta-analyses mmeteat-aa-naanlyaslyesses meta-analyses
T T
f f
o o
eciSion) lLeviemavliuetealdt e bpdo*p ulations eciSion) nnpisr oREulLecvesvieeimecdavdfoeliuuuemtnleral/cemdte e e bfoep dffrenor* codpt rtmaueivtla aieosttminino genthnlseat t nnobfe RSnnpiitsnrroe egoREumca cvesouteeiecmmdsd foeceuumemofnlrnu/necemtlefen /lfooee difcfrrenfar ftcodptteirnitmarcoeigovttna ii ceosv teiminennd egtufhanlreaevt to r nnuws ennobRGelfe lfer RS uiteecnroleaesongmcttame eaoutesrbmmmss lecci/meesoofennuhnneftdlfeffn /iallocdediitccrafai fttocpteiinnniyrcogg ’otnsli ce v e siends uf arevo r npnbore nnuwoR ts hc eeuRGeaelcslferrd oueemecumlfaosnurftetummelea/ lsero bmes frlncfi/e esdotenrchnafedfteftiiaalicdviottcaemnitoc iaenntyhnng ’sladt e t is ms s a y npnbore oR t hceuaecsrdoemumfurfeuml/ leo efrnf edtrcaettiaivotemn aethnnadt t i ms a y
Pr Data derived from a Pr ranDdaotma idzeedri vtreida l foror m a evridaenndcoem firzoemd tsriianlg loer eveidviednecnec efr ofrmom si nsignlge le n eEvviiddeennccee ffrroomm ssiinnggllee n Evidence from single
y ( single randomized trial y ( nonsrianngdleo mrainzdedom stiuzeddie tsrial ranndoonmrainzdeodm triizaeld o sr t udies rarnadnodmomizeizde dtr itarila ol ro r rarnadnodmomizeizde dtr itarli aol ro r randomized trial or
nT or nonrandomized studies nT or nonrandomized studies nonrandomized studies nonnornarnadnodmomizeizde dst ustduidesies nonnornarnadnodmomizeizde dst ustduiedsies nonrandomized studies
ai ai
of cerT lVeveearvylue lalimt eCidte*d populations of cerT npusr oRelVecfeveeuecarvldoy/luueme lrafliemfmt e eCoecidtrtne*i dvtdrea eptaiootpmnu etlhanatti toi s n s nobfe Rnpuitnrsre egoReca cfeouutecmmsldoe/umemefrnufeemftlen /ooecedrrtnfa i fdvptteriearcoeottnaiicov teimnend etufhanraevt to i s r nuws enobRelfe lfe R uitecnrleesongctame aoutsbmmmsslei/meesfennuheftdlfen /iaocdedtrafai focpteniyrco ’otnslice v e siends uf arevo r npnor nuwoRts c eeuReelcslfed oueecumlfosnuretmmela/ seobmesfrlnfi/e esdtenrchafedftetiiaaicdvottaemnioc aentyhnn ’sladte t is ms s a y npnor oRt ceuecsdoeumfureml/ eoefrnf edtrcaettiaivotemn aethnnadt t i ms a y
TimaTe Ooofrn elsyxt apcneodrnatssre,d nc osaufs sce a osrpteuindiioens , TimaTe snt uOOoodnfrine l yelssy xt,e a pcoxneorpdr nestassrtreat,d nnoc dosapuafsi nsrcedi a oo sronptefu,i ndcciaiaoersnsee , noopr Osnisntn tuiOalodynnni eldd,y saic v,era edoxsr rpeog es fis rntcattg uano drdepeiaxienprsdie,o ron t f, ccaarsee nostp anooOinprn n Odiisnloanytnia rlod,ydnn ic dd,vo aaeicfvsr raceedgsar iesognrt feigus n ctdgeuai xderepesixee,p sroet, rr t nbste unosO tdph naOiiaelnnynrsdim lo,eay nf oxrud,dpr lic e vsoaretftsa r cegona ipdsnriategnur iddoe inxoep,fs ec,c raoats rr e e nbste uO dhniaelyrsm ,e foxuprl e srtta onpdianrido no,f ccaasree
S S
e e
Suggested phrases for shoSuuldggested phrases for is rsehaosuoldnable maisy /rmeaigshotn abbel econsidered COmRa IyII/:m ight be consCidOeRre dIII: COR III: COR III:
writing recommendations is rewcroitmingm reencdoemdmendations canis b ree cuosmefmule/enfdfeecdtive/beneficial macya/nm bige huts beefu rle/eafsfeocntaivbele/beneficial Nom Baeyn/emfiitght be reasoHnaarbmle No Benefit Harm
is indicated is pisr oinbdaibclayt eredcommended usiesf uplrnoebsasb/elyf freecctoivmenmeesns dise d is nuoste f ulness/effectivepnoetsesn tiisa ll y is not potentially
is useful/effective/beneficial ori sin udsiceafutel/deffective/beneficial u n okrn ionwdinc/autnecdlear/uncertain rec oumnkmneonwdne/dunclear/uhnacrmerftualin recommended harmful
or not well established is n oort innodti cwaetelld establischaeuds es harm is not indicated causes harm
should not associated with should not associated with
be done excess morbid- be done excess morbid-
Comparative treaCtmomenpta/sratrtaivteeg y A is tretartematemnte/nstt/rsattreagtye gAy iAs pisr obably treatment/strategy A is probably
effectiveness phrases† recoemffemcteivnedneeds/isn dpihcraatseeds i†n recroemcommemndeendd/eindd/iincdaitceadt eind in recommended/indicated in is not useful/ ity/mortality is not useful/ ity/mortality
preference to treatment B prepfreerfeenrceen ctoe ttore tartematemnte nBt B preference to treatment B beneficial/ should not beneficial/ should not
effective be done effective be done
treatment A should be chosen it istr ereaatmsoennat bAle s thoo cuhldo obse ec hosen it is reasonable to choose
4 over treatment B treoavtmere tnrte aAt moveenrt tBreatment B treatment A over treatment B
* Data available from clinical t*r Diaalsta o ar vraeiglaisbtlreie fsro amb oculitn tichael utrsiaelfsu lonre sresg/eisfftircieasc ya bino udti fftehree nuts esfuublnpeospsu/elaftfiiocancs,y in different subpopulations,
such as gender, age, history soufc dhi aabse gteesn,d heirs,t oargye ,o hf ipsrtioorry m oyf odciaabrdeitaels i,n hfaisrctotiroyn o, fh pisrtioorry m oyf ohceaarrdti afal iilnufraer,c tion, history of heart failure,
and prior aspirin use. A recomanmde pnrdioart iaosnp wiriinth u Lseev. eAl oref cEovmidmenecned aBt ioonr Cw idtho eLse vneolt oimf Epvlyid tehnact et hBe o r C does not imply that the
recommendation is weak. Marencyo immmpoerntadnatt icolnin iisc awl eqauke.s Mtioannsy aimddproerstasnedt cinlin tihcea l gquuideestliinoenss daod dnroets sleendd in the guidelines do not lend
themselves to clinical trials. Ethveemn stheolvuegsh t ora cnldinoicmailz terdia ltsri.a Elsv eanre t hnoout gahv arialanbdloem, tihzeerde tmriaalys baree a n voet rayv calielaabr le , there may be a very clear
clinical consensus that a parctilcinuilcaar l tceostn soer nthsuersa tphya tis a u psaerftuicl uolra er ftfeesctt iover .t herapy is useful or effective.
† For comparative effectivene†s Fso rre ccoommpmaerantdivaeti oenffse c(Ctivlaesnse Is sa nrdec IoIam; mLeevnedl aotfi oEnvsid (eCnlacses A I aanndd IBIa o; nLleyv),e sl toufd Eievsid ence A and B only), studies
that support the use of compthaarat tsour pvpeorbrts tshheo uuslde ionfv coolvme pdairreactot rc voemrbpsa rsishoonusld o ifn tvhoelv tere daitrmecetn ctso morp satrrisaotengsi eosf the treatments or strategies
being evaluated. being evaluated.
Table 1. Applying ClassificTaatibonle o f1 R. e Acopmplmyinegn dCaltaisosnisfi caantdio Lne ovef lR oefc Eovmidmeenncdeations and Level of Evidence
Size of TreaT meSniTz ee foffe cTTreaT menT effecT
A recommendation with Level of Evidence B or C
Class I ClCalsass sII aI ClCalsass sII bIIa ClCalsass sII II INbo Benefit Class III No Benefit does not imply that the recommendation is weak.
Benefit >>> Risk BeBneenfiet f>it >> >Ri>sk R isk BeBneenfeitf i>t > R>isk R isk orB Celnaefsits > II IR Hisakr m or Class III Harm Many important clinical questions addressed in the
Pshroocuedludr eb/eT rpeeartfmoremnet d/ AfodcPsduhristooiecoduen dlaoudlb rs jebetu/ecTdt ripiveeeeasrs tfwm onrieemthene dt de/d AobdAfjodedcicdtuitiositvineoeadnsl a osnlbt eusjeetdudcideetiisdve ;ews sa iw dtnhdiet ihbeti rdooenadadl AobdjdeictitoivneatPsler sosntct eeueddudireeesd/ ;w a tidrtehda ibttmirooennaatdl tPersotc edure/ treatment gAultihdoeulignhe sr adnod noomt ilzeendd t rthiaelsm asreel vuensa tvoa iclalibnliec,a tl htreiraels m. ay
administered It aIdsm rienaissteorneadble to per- reIgti sItsry r deaatas ownoaubldl bee t oh epleprfu-l Cnoor reb egIIniIse: tf rity dHNaoetltp af uwl ould BNbeoen Pehrfeoitvlpenfu l Cnoo rb eIInIe: f it HNoeltp ful BNeon Perfoitven be a very clear clinical consensus that a particular
test or therapy is useful or effective.
form procedure/administer Prfoocrmed uprreoc/Terdeuartem/aednmt inister CoPrr oIIcI:e durEexc/eTsrse Caotsmt eHnat r mful Cor III: Excess Cost Harmful
treatment mtareya btme eCnotnsIdered hamrma y be wC/oo BnesnIedfite rteo dPatients harm w/o Benefit to Patients
or Harmful or Harmful
* Data available from clinical trials or registries about
ecT level a ecT n Rleecvoemlm aendation that n Rne Rceocmommemnednadtiaotnio inn tfhaavto r n nR eRceocmommmenednadtaiotnio’ns in favor n nR eRceocmommmenednadtaiotnio nth’sa t n Recommendation that the usefulness/efficacy in different subpopulations,
enT eff Mevualltuipaltee dp*o pulations enT eff npisr oSuMecusveeufafdfliltucuuiplirae/elteene fo tdfp ree*o cvt prtieiudvaleeatntmicoeen nsftr o m nobfe Snpiitsnrro egoSuma cusuteeefmsfd fiecucueoflirnue/netlenf /lfooteif crrefe ftcpvteirntirceidgovtaei cevetnemevcdieeud nrefetrn o cme nuws enobGelfe lfr S uiteenrolaesngmttae eautesrbmss lecci/esoofenuhnnftlfeff /illocdeiiccra f fttcpeiinnyrcgg otli cev eesevdsi ud reen ce pnborenuwo ts hc euGeaelslfrrd ueemeulfasnurftetuelea/ lsero bs frlcfi/ esoterchnfeftefiialcdvitcae mtc iaenynng ldt e ismss a y pnboreo t hcuaesrdemufurfeul/ leo frf etrcetiavtem aenndt ims a y sapunricdoh rp marisoy ros acesxa,pr diarigianel ,ui nshfeias.rt cotrioyn o, fh disiatobreyte osf, hheisatrotr fya ioluf re,
TreaTm Droara ntmdao edmtaeir-zaivenedad lc yflsirnoeimsca ml turilatilpsl e TreaTm moru mDrolatraie nptmtdalaeo e- dmatraeanir-nzaaivedlnyedoasd mlce yflsisirznoeeimsdca tmlr itaurillastil ps l e ftrrioamomlrsu m lmotierpu tllmaeti- pearltaneana -rdalayonnsmaedlsioyzsmeedisz terdia ls ermavftenirrdtdioaaeom-lnmsa c nmoiezar uelf ylrmdtosi petemrltsiea am -lrasau nnloatdrilp oy lsmee i szed nmm ermueSavtluteaniifdt-pdfaaeiloce-nnmai acernliaenyza nteslf ydrdeeoso vstemmirdsi aiemzlnesucd loe ttr irpf ir laoelm s or nmm ueStlutaif-pfailceni aerlanynts deeovsmidieznecde t rfiraolms or † F(soCturl adcsioesms I tpahanardta stIiIuvaep; pLeoeffrvete ctlth iovefe uEnseveisd soe fnr ecccoeo mAmp amanredant oBdra otvinoelrnybs)s,
of of should involve direct comparisons of the
eciSion) lLeviemavliuetealdt e bpdo*p ulations eciSion) nnpisr oREulLecvesvieeimecdavdfoeliuuuemtnleral/cemdte e e bfoep dffrenor* codpt rtmaueivtla aieosttminino egnthnlseat t nnobfe RSnnpiitsnrroe egoREumca cvesouteeiecmmdsd foeceuumemofnlrnu/necemtlefen /lfooee difcfrrenfar ftcodptteirnitmarcoeigovttna ii ceosv teiminennd egtufhanlreaevt to r nnuws ennobRGelfe lfer RS uiteecnroleaesongmcttame eaoutesrbmmmss lecci/meesoofennuhnneftdlfeffn /iallocdediitccrafai fttocpteiinnniyrcogg ’otnsli ce v e siends uf arevo r npnbore nnuwoR ts hc eeuRGeaelcslferrd oueemecumlfasonurftetummelea/ lsero bmes frlncfi/e esdotenrchnafedfteftiiaalicdviottcaemnitoc iaenntyhnng ’sladt e t is ms s a y npnbore oR t hceuaecsrdoemumfurfeuml/ leo efrnf edtrcaettiaivotemn aethnnadt t i ms a y treatments or strategies being evaluated.
Pr Data derived from a Pr ranDdaotma idzeedri vtreida l foror m a evridaenndcoem firzoemd tsriianlg loer eveidviednecnec efr ofrmom si nsignlge le n eEvviiddeennccee ffrroomm ssiinnggllee n Evidence from single
y ( single randomized trial y ( nonsrianngdleo mrainzdedom stiuzeddie tsrial ranndoonmrainzdeodm triizaeld o sr t udies rarnadnodmomizeizde dtr itarila ol ro r rarnadnodmomizeizde dtr itarli aol ro r randomized trial or
nT or nonrandomized studies nT or nonrandomized studies nonrandomized studies nonnornarnadnodmomizeizde dst ustduidesies nonnornarnadnodmomizeizde dst ustduiedsies nonrandomized studies
ai ai
of cerT lVeveearvylue lalimt eCidte*d populations of cerT npusr oRelVecfeveeuecarvldoy/luueme lrafliemfmt e eCoecidtrtne*i dvtdrea eptaiootpmnu etlhanatti toi s n s nobfe Rnpuitnrsre egoReca cfeouutecmmsldoe/umemefrnufeemftlen /ooecedrrtnfa i fdvptteriearcoeottnaiicov teimnend etufhanraevt to i s r nuws enobRelfe lfe R uitecnrleesongctame aoutsbmmmsslei/meesfennuheftdlfen /iaocdedtrafai focpteniyrco ’otnslice v e siends uf arevo r npnor nuwoRts c eeuReelcslfed oueecumlfsonuretmmela/ seobmesfrlnfi/e esdtenrchafedftetiiaaicdvottaemnioc aentyhnn ’sladte t is ms s a y npnor oRt ceuecsdoeumfureml/ eoefrnf edtrcaettiaivotemn aethnnadt t i ms a y
TimaTe Ooofrn elsyxt apcneodrntassre,d nc osaufs sce a osrpteuindiioens , TimaTe snt uOOoodnfrine l yelssy xt,e a pcoxneorpdr nestassrtreat,d nnoc dosapuafsi nsrcedi a oo sronptefu,i ndcciaiaoersnsee , noopr Osnisntn tuiOalodynnni eldd,y saic v,era edoxsr rpeog es fis rntcattg uano drdepeiaxienprsdie,o ron t f, ccaarsee nostp anooOinprn n Odiisnloanytnia rlod,ydnn ic dd,vo aaeicfvsr raceedgsar iesognrt feigus n ctdgeuai xderepesixee,p sroet, rr t nbste unosO tdph naOiiaelnnynrsdim lo,eay nf oxrud,dpr lic e vsoaretftsa r cegona ipdsnriategnur iddoe inxoep,fs ec,c raoats rr e e nbste uO dhniaelyrsm ,e foxuprl e srtta onpdianrido no,f ccaasree
S S
e e
Suggested phrases for shoSuuldggested phrases for is rsehaosuoldnable maisy /rmeaigshotn abbel econsidered COmRa IyII/:m ight be consCidOeRre dIII: COR III: COR III:
writing recommendations is rewcroitmingm reencdoemdmendations canis b ree cuosmefmule/enfdfeecdtive/beneficial macya/nm bige huts beefu rle/eafsfeocntaivbele/beneficial Nom Baeyn/emfiitght be reasoHnaarbmle No Benefit Harm
is indicated is pisr oinbdaibclayt eredcommended usiesf uplrnoebsasb/elyf freecctoivmenmeesns dise d is nuoste f ulness/effectivepnoetsesn tiisa ll y is not potentially
is useful/effective/beneficial ori sin udsiceafutel/deffective/beneficial u n okrn ionwdinc/autnecdlear/uncertain rec oumnkmneonwdne/dunclear/uhnacrmerftualin recommended harmful
or not well established is n oort innodti cwaetelld establischaeuds es harm is not indicated causes harm
should not associated with sshhoouulldd nnoott be associated with
be done excess morbid- pbeer dfoornmeed/ excess morbid-
eCfofemcptiaveranteivses phrases† rptrereceaofeCtemfmorfeemmecnnptceitave/nser dtatnoertaei dvtts/reeiseng adpytim hcAraea itnssete d sB i†n rptrerecerptaofrerteemcmeraofetmeemnmrnceetmeen/nns cdetttoe/enrsa ddtttto/rereiea ndgtatd/ryetieinm gcAadyate im itcnAseat e d pitnBs erit nod B b inab ly rptrereceaoftemmremenncete/ns dttoera dtt/reiengadytim cAae itnset d pB rino b ably bise nnoefit cuisael/f ul/ sithyo/mulodr ntaolitt y aobisdte hmnneoeirnfit ciusistaeel/rf eudl// ssithhyoo/muulloddr nntaoolittt y be
effective be done eisf fneoctti vueseful/ pbeer dfoornmeed/
otrveeart mtreeanttm Ae snht oBuld be chosen ittr eisotar vtermeearate mstnrotee nanAatt m boAlvee esn trhto otB rcuehladot mobsee enc t h Bosen ittr eisa trmeaesnot nAa bolvee tro t rcehaotmoseen t B befefneecfiticvieal/ aodthmeirnistered/ 5
* Data available from clinical t*r Diaalsta o ar vraeiglaisbtlreie fsro amb oculitn tichael utrsiaelfsu lonre sresg/eisfftircieasc ya bino udti fftehree nuts esfuublnpeospsu/elaftfiiocancs,y in different subpopulations,
such as gender, age, history soufc dhi aabse gteesn,d heirs,t oargye ,o hf ipsrtioorry m oyf odciaabrdeitaels i,n hfaisrctotiroyn o, fh pisrtioorry m oyf ohceaarrdti afal iilnufraer,c tion, history of heart failure,
and prior aspirin use. A recomanmde pnrdioart iaosnp wiriinth u Lseev. eAl oref cEovmidmenecned aBt ioonr Cw idtho eLse vneolt oimf Epvlyid tehnact et hBe o r C does not imply that the
recommendation is weak. Marencyo immmpoerntadnatt icolnin iisc awl eqauke.s Mtioannsy aimddproerstasnedt cinlin tihcea l gquuideestliinoenss daod dnroets sleendd in the guidelines do not lend
themselves to clinical trials. Ethveemn stheolvuegsh t ora cnldinoicmailz terdia ltsri.a Elsv eanre t hnoout gahv arialanbdloem, tihzeerde tmriaalys baree a n voet rayv calielaabr le , there may be a very clear
clinical consensus that a parctilcinuilcaar l tceostn soer nthsuersa tphya tis a u psaerftuicl uolra er ftfeesctt iover .t herapy is useful or effective.
† For comparative effectivene†s Fso rre ccoommpmaerantdivaeti oenffse c(Ctivlaesnse Is sa nrdec IoIam; mLeevnedl aotfi oEnvsid (eCnlacses A I aanndd IBIa o; nLleyv),e sl toufd Eievsid ence A and B only), studies
that support the use of compthaarat tsour pvpeorbrts tshheo uuslde ionfv coolvme pdairreactot rc voemrbpsa rsishoonusld o ifn tvhoelv tere daitrmecetn ctso morp satrrisaotengsi eosf the treatments or strategies
being evaluated. being evaluated.
2. Clinical Definition
The generally accepted definition of hypertrophic
cardiomyopathy (HCM), is a disease state characterized by
unexplained left ventricular (LV) hypertrophy associated with
nondilated ventricular chambers in the absence of another
cardiac or systemic disease that itself would be capable of
producing the magnitude of hypertrophy evident in a given
patient. Clinically, HCM is usually recognized by maximal LV
wall thickness ≥15 mm, with wall thickness of 13 to 14 mm
considered borderline, particularly in the presence of other
compelling information (e.g., family history of HCM), based on
echocardiography. In terms of LV wall-thickness measurements,
the literature has been largely focused on echocardiography,
although cardiovascular magnetic resonance (CMR) is now used
with increasing frequency in HCM. In the case of children,
increased LV wall thickness is defined as wall thickness ≥2
standard deviations above the mean (z score ≥2) for age, sex, or
body size. However, it should be underscored that in principle,
any degree of wall thickness is compatible with the presence of
the HCM genetic substrate and that an emerging subgroup
within the broad clinical spectrum is composed of family
members with disease-causing sarcomere mutations but
without evidence of the disease phenotype (i.e., LV
hypertrophy).
6
3. Genetic Testing Strategies/Family
Screening
Class I 1. Evaluation of familial inheritance and genetic
counseling is recommended as part of the
assessment of patients with HCM. (Level of
Evidence: B)

2. Patients who undergo genetic testing should also
undergo counseling by someone knowledgeable in
the genetics of cardiovascular disease so that results
and their clinical significance can be appropriately
reviewed with the patient. (Level of Evidence: B)

3. Screening (clinical, with or without genetic testing)
is recommended in first-degree relatives of patients
with HCM. (Level of Evidence: B)

4. Genetic testing for HCM and other genetic causes
of unexplained cardiac hypertrophy is recommended
in patients with an atypical clinical presentation of
HCM or when another genetic condition is suspected
to be the cause. (Level of Evidence: B)
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Class IIa 1. Genetic testing is reasonable in the index patient to
facilitate the identification of first-degree family
members at risk for developing HCM. (Level of
Evidence: B)
Class IIb 1. The usefulness of genetic testing in the
assessment of risk of sudden cardiac death (SCD) in
HCM is uncertain. (Level of Evidence: B)
Class III: 1. Genetic testing is not indicated in relatives when
No Benefit the index patient does not have a definitive
pathogenic mutation. (Level of Evidence: B)

2. Ongoing clinical screening is not indicated in
genotype-negative relatives in families with HCM.
(Level of Evidence: B)
8