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简介：AbstractImportance:Pathogenic variants in the RBM20 gene are associated with aggressive dilated cardiomyopathy (DCM). Recently, RBM20 was found to be associated with left ventricular non-compaction cardiomyopathy (LVNC). Thus far, only five families with LVNC have been reported to carry variants in RBM20. It remains unknown whether the variants in RBM20 associated with DCM can also cause LVNC.Objective:To elucidate the causative RBM20 variant in two unrelated patients with both LVNC and DCM, and to identify the clinical characteristics associated with variants in RBM20.Methods:Trio whole-exome sequencing (WES) was performed. Variants were filtered and classified in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG).Results:We identified two distinct de novo variants in RBM20 (one per patient) in these two patients with LVNC. Both variants have been reported in patients with DCM, without the LVNC phenotype. Patient 1 was an 11-year-old girl who had DCM, LVNC, and heart failure; the ratio of noncompacted-to-compacted myocardium was 2.7:1. A de novo heterozygous variant c.1907G>A (p.Arg636His) in exon 9 was identified in this patient. Patient 2 was a 13-year-old boy who had clinical phenotypes identical to those of Patient 1; the ratio of noncompacted-to-compacted myocardium was 3.2:1 in this patient. WES revealed a de novo heterozygous variant c.1909A>G (p.Ser637Gly) in exon 9. Both variants were previously characterized as pathogenic, and our study classified them as pathogenic variants based on the ACMG guidelines.Interpretation:We found that two patients with LVNC had variants in RBM20. Our results extended the clinical spectrum of the two RBM20 variants and illustrated that the same variant in RBM20 can cause DCM, with or without the LVNC phenotype.

简介：AbstractHypertrophic cardiomyopathy (HCM), the most common single-gene cardiovascular disease, is associated with increased risk for arrhythmias, heart failure, and sudden cardiac death. The hemodynamic changes known to occur during pregnancy can exacerbate heart failure and arrhythmias in women with HCM. We present a 30-year-old woman with HCM to illustrate the benefits of multidisciplinary team management of severe left ventricular outflow tract obstruction (peak gradient >100 mmHg) for optimal maternal and fetal outcomes.

简介：ObjectivesThestudywasperformedtoassesstheleftventricular(LV)regionalandglobaldiastolicfunction,leftventricularwallmotionfeaturesinpatientswithHypertrophiccardiomyopathybyQuantitativeTissueVelocityImaging(QTVI).Methods42patientswithhypertrophiccardiomyopathyand36age-matchednormalsubjectsunderwentQTVIstudy.Off-lineLVregionalmusculartissuevelocityImagingalongLVapicallong-axisviewwereobtained.RegionaldiastolicfunctionwasassessedinusingpeaktissuevelocitiesofLVregionalmusculartissueduringearlydiastole(Ve)andLAcontraction(Va),Ve/Varatio,derivedfromTissueVelocityImaging.Globaldiastolicfunctionwasreflectedbyisovolumicrelaxationtime(IRT)andmitralvalvepeakflowvelocity(E/A)calculatedwithpulsedwavedoppler.Theend-diastolicinterventricularseptalthickness(IVSt)wasmeasuredbyconventional2-dimensionechocardiography.Results①Ve,Va,Ve/Vainthesegmentsofhypertrophicinterventricularseptum(IVS)reducedwlhileE/AratiosignificantlyreducedandIRTmarkedlyprolongedinHCMpatientsthaninnormalsubjects.②Ve,Ve/VaweresignificantreducedinthesegmentsofhypertrophicinterventricularseptumcomparedwithotherLVsegmentsinHCMpatients.③TherewasacorrelationbetweenVe/VaandE/AinHCMpatientswithabnormalE/Aratio(r=0.70).④TherewasanegativecorrelationbetweenVe/VaandIVStinnon-obstructionHCMpatients(Bgroup,r=-0.61)ConclusionsQTVIoffersanewermethodinclinicalpracticewhichhasahighersensibilityandaccuracyinevaluatingtheLVregionalandglobaldiastolicfunctioninHCMpatients.

简介：BackgroundHeartfailureisoneofthemaincausesofdeathduetoprogressivemusculardystrophyofDuchennemusculardystrophy(DMD)inthemajorityofthecases.ThereishighincidenceofarterialthromboembolisminDMDpatientswithsevereheartfailure.However,ithasbeenreceivinglittleattentionwhetheranticoagulativetherapyinDMDpatientswithsevereheartfailureinsinusrhythmshouldbeperformed.HereinwepresentacaseofDMDpatients,withsevereheartfailureinsinusrhythm,whopresentsalargemuralthrombusformationatleftventricularanteriorwall.

简介：Normalregionalleftventricular(LV)mechanicalcontractionissynchronous,resultinginefficientejection.Abnormalitiesinelectricalactivationormyocardialdiseasesmayaffectthetimingofregionalcontraction,resultingindiscoordinatedordyssynchronouscontraction,whichisinefficient.Thisarticlereviewsvariousapproachestoquantifydyssynchrony,focusingonLVdyssynchrony,thathavebeenprincipallyrelatedtocardiacresynchronizationtherapy(CRT).SeveralattemptshavebeenmadetoimprovepatientselectionforCRTbyuseofechocardiographicdyssynchrony;however,nonehavegainedclinicalacceptance.ThisreviewfocusesonthedifferentreasonsfortheexistenceLVdyssynchrony,thedyssynchronousstrainpatternsindicativeofCRTresponse,andtheprognosticimplicationsofdyssynchrony.Interestinechocardiographicdyssynchronyremainshighbecauseofitsmechanisticandprognosticimportance.Dyssynchronymayoccurfromelectricalornonelectricalcauses.PatientswithawideQRScomplexwhohavebaselinedyssynchronyfromelectricaldelayingeneralhaveafavorableresponsetoCRT,whereaspatientswithnonelectricaldyssynchrony(fromcontractileheterogeneityorscar)atthebaselinehaveaworseprognosis.Newinsightsintothemeaningofmechanicaldyssynchronycontinuetoemerge,andthisarticle

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简介：客观：调查长期的权利的影响在室的改变和病人的心脏的功能与上的室的顶端的踱步高级并且酷刑逼供有正常的心结构和心脏的功能的心房与心室的阻塞。另外，我们为选最佳的电极培植为site.Methods提供许多证据：学习参加者包括了为心律调整器代替被招收并且在门诊病人为植入的心律调整器的考试重游的病人。心律调整器被植入到高级的对待和酷刑逼供心房与心室的阻塞。在心律调整器培植的时候，病人们有正常心脏的功能并且没显示出严肃的心疾病或心脏的膨胀。到后续的从培植的持续时间是超过5年。踱步的率比80%高。有左室的喷射部分(LVEF)的病人<50%并且一条左室的结束心脏舒张的直径(LVEDD)>55公里被排除。室的改变被定义为follows:increase在10%的LVEDD和为在培植以后的五年的在25%的LVEF的减小。心脏的功能根据纽约心协会(NYHA)classification.Results被评估:有吝啬的年龄的82个病人的一个总数(66.97?????????????????吗？？

简介：Theventricularseptumseparatestherightandleftventriclesandthusispartofbothventricles.Itisdirectedobliquelybackwardtotheright,andcurvedwiththeconvexitytowardtherightventricle;itmustbeemphasizedthatthetotalcardiacseptumhasacomplex,longitudinaltwistanddoesnotlieinanysingleplane.Itsupperandposteriorpart,isthinandfibrous,andistermedthemembranousventricularseptum.Thegreaterportionoftheseptumisthickandmuscularandconstitutesthemuscularventricularseptum.Theventricularseptumconsistsoftwolayers,athinlayerontheRVsideandathickerlayerontheLVside[1].Themajorseptalarteriestendtorunbetweenthesetwolayers.

简介：BackgroundArrhythmogenicrightventricularcardiomyopathy(ARVC)isamajorcauseforsuddencardiacdeathduetoventriculartachycardia.Litterisknownaboutitslong-termoutcomesinChineseARVCpatients.Thepurposeofthisstudywastoevaluatethelong-termclinicaloutcomesinpatientswithARVCandtoclarifytheriskfactorsofcardiacevents.MethodsFortysubjectsfulfillingmodifiedTaskForcecriteriawereincludedinthisstudy.Informationonclinicalpresentation,electrocardiographicandcardiacimagingfindings,andlong-termoutcomeofcaseswereinvestigated.ResultsAveragefollow-upperiodfromonsetwas57.5±42.6months.Themeanageatonsetofsymptoms(32.2±12.7years)andmalepredominance(85.0%)weresimilartothatreportedinotherstudies.Palpitationswerethemostfrequentsymptom(82.5%).T-waveinversionwasthemostcommonpresentingabnormalityonresting12-leadECG(75%).Ventriculartachycardiawithleftbundlebranchblockmorphologywassubsequentlydocumentedinatotalof28(70%)subjectsduringastudyperiod.Thecumulativemortalityratewas7.5%.ConclusionClinicalpresentationinChineseARVCpatientswassimilartothatreportedinotherstudies.ARVCisassociatedwithearlymortalitythatisdifferenttoothercountrypopulation.

简介：BackgroundLeftventricularhypertrophy(LVH)inducedbysystemichypertensionrepresentsamaladaptiveresponsetotheincreasedoverload.HoweverantihypertensivetreatmentsarenotalwaysusefultoregressorpreventLVH.Thoroughlyunderstandingthemechanismswillhelptofindnewtherapeutictargetsthatpreventorreverseleftventricularhypertrophy.Anumberofregulatorsandmolecularsignalingpathwayshavebeenshowntobeinvolvedinthehypertrophicprocess,suchasangiotensinII,heatshockproteins90,microRNAs,TRPC,mTOR,HDACandPI3K/Aktsignalingpathways.Therefore,othertreatments,suchasG1cyclinantagonists,HSP90inhibitor,Rho-kinaseinhibitor,calcineurinblockers,CS866,statins,scutellarin,andaldosteroneantagonistcouldpreventleftventricularhypertrophy.

简介：BackgroundToinvestigatetheassociationbetweenleftventricularremodelingandstresshyperglycemia(SH)inpatientswithacuteanteriorwallmyocardialInfarction.MethodsPatientswithacuteanteriormyocardialinfarctionandasuccessfulprimarypercutaneouscoronaryintervention(PCI)wereenrolledanddividedintotwogroupsaccordingtothepresenceorabsenceofSH.Patientswithdiabetesmellituswereexcluded.Echocardiographicstudieswereperformedondischargeandat6monthfollow-up.Leftventricular(LV)ejectionfractions(EF),LVend-diastolicvolume(EDV)andLVend-systolicvolume(ESV)wereobtainedatbaselineandat6month.DifferencesbetweenchangesofESV(ΔESV)andchangesofEDV(ΔEDV)inthetwogroupsaswellasEFimprovementrate(ΔEF%)oversixmonthwereobtained.CorrelationbetweenSHandLVremodelingwasinvestigated.Results(1)Atbaseline,thelevelofhemoglobinA1cwassignificantlyhigherinSHgroup(6.9±1.4vs6.2±0.8P=0.04).Otherbaselinecharacteristics,includingpeakserumcreatinekinaseMBandLVfunction,weresimilarbetweentwogroups;(2)EFincreasedsignificantlyover6monthsinbothgroupwithSH((41.1±7.2)%vs(52.7±8.4)%,P=0.02)andgroupwithoutSH.((43.6±8.7)%vs(54.5±9.3)%,P=0.03)(3)OnlyinSHgroup,EDVincreasedsignificantlyat6month(139.6±26.7vs126.1±26.7P=0.04);(4)TherewasaweakcorrelationbetweenΔEDVandtheleveloffastingplasmaglucoseonadmission.(Pearson'sr=0.35,P<0.01).Conclusions(1)Previousglucosemetabolismdisorderisatleastpartiallyresponsibleforhyperglycemiaonadmission;(2)GivensuccessfulprimaryPCIwithinrecommendedtimeinterval,leftventricularfunctionimprovedregardlessofwhetherSHispresentornot;(3)Thedegreeofglucosemetabolicdysfunctiononadmissionisweaklyassociatedwiththeremodelingprocessin6months

简介：BackgroundAnomalousoriginoftheleftcoronaryarteryfromthepulmonaryarteryisararecongenitalcardiaclesionresultinginmyocardialischemiaeveninfarction,morphologicalimpairmentanddysfunctionofleftventricle,togetherwithmitralregurgitation.Herewewillintroduceourexperienceinthesurgicalrepairofthiskindofcongenitallesionandtheretrospectiveanalysisabouttheimprovementofleftventriculardimensionandmitralregurgitationinearlypostoperativeterm.MethodFromMay1998toJuly2012,38consecutivepatientswithanomalouscoronaryarteryfromthepulmonaryarteryunderwentsurgicalcorrection(33receivedleftcoronaryarteryre-implantation,4leftcoronaryarteryligationorprimaryclosure,1Takeuchiprocedure,and10simultaneousmitralvalveplasty).Leftventriculardimension,mitralregurgitation,andejectionfraction,weremeasuredbycolorDopplerechocardiographypreoperatively,and1monthafterdischarge.ResultsHospitalsurvivalwas94.7%(2in-hospitaldeaths).Tenpaptientswithmorethanmoderatemitralregurgitationreceivedsimultaneousmitralplasty,oneofwhomwasconvertedtomechanicalprostheticvalvereplacement.Mitralvalveannuloplastywasappliedin9casesofcoronaryre-implantationcorrection,3ofwhomalsoreceivedadditionalmitralleafletcleftrepair.Meanwhile8patientsunderwentotherdifferentconcomitantoperations.Echocardiographicresultsforthesurvivals1monthafterdischargeshowedthatleftventricularend-diastolic,endsystolicdimensiondecreasedfrom40.05±5.56mmand28.94±6.21mmto33.07±6.82mm(P<0.01)and23.04±5.87mm(P<0.01)respectively.Theaveragemitralregurgitationgradewasalsoreducedfrom2.36±1.08to1.64±93(P<0.05)inthegroup.AllsurvivalpatientsimprovedclinicallyandNYHAfunctionalclassdecreasedsignificantlyfrom2.37±1.08to2.10±0.54(P<0.05).ConclusionsThesurgicalrepairofanomalousoriginoftheleftcoronaryarteryfromthepulmonaryarteryissafeandeffective,andcange

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简介：ObjectivesRecentstudieshavedescribedregionaldifferencesintheelectrophysiologyandpharmacologyofventricularmyocardiumincanine,feline,rat,guineapig,andhumanhearts.ThishasbeenshowntobeduetoasmallerIKsandalagersodium-calciumexchangecurrent(INa-Ca)andlateINainMregion(deepsubepicardialtomidmyocardial).Studiesfromourlaboratoryhavefoundanewrepolarizationcurrent-nonselectivecationcurrent(NSCCs)existinginrabbitrightventricularmyocytes.MethodsWeexaminedthecharacteristicsofNSCCsinepicardial,Mregion,andendocardialcellsisolatedfromtherabbitleftventriclewithstandardmicroelectrodeandwhole-cellpatch-clamptechniques.ThepermeabilitytoNa+,K+,Li+,Cs+butnottoCl-indicatingthatitwasanonselectivecationcurrent.Gd3+(0.1mmol/l)andLa3+(0.1mmol/l)canblockthecurrentmarkedly.ResultsFurthercharacterizationofNSCCswassignificantlysmallerinMcellsthaninepicardialandendocardialcells.NSCCscurrentdensitywassignificantlysmallerinMcellsthaninepicardialandendocardialcells.Withrepolarizationto-80mV,INscurrentdensitywas(-0.44±0.05)PA/PFinendocardialcells,(-0.12±0.05)PA/PFinMcellsand(-0.28±0.07)PA/PFinepicardialcells;andwithrepolarizationto+30mV,INscurrentdensitywas(1.09±0.29)PA/PFinendocardialcells,(0.38±0.09)PA/PFinMcellsand(0.91±0.32)PA/PFinepicardialcells.ConclusionsTransmuraldispersionofrepolarizationwasduetotheheterogeneityofNSCCsinrabbitleftventricleepicardial,endocardialmyocytesandMcells.Thesefindingsmayadvanceourunderstandingoftheionicbasisforourunderstandingoffactorscontributingtothedevelopmentofcardiacarrhythmias.

简介：ObjectivesToquantitativelyanalyzethelongitudinalmyocardialsystolicanddiastolicvelocitiesandtimeintervalsoftheleftventricleinnormalsubjects,andtoexplorethevalueofpulsedDopplertissueimaging(DTI)fortheassessmentofleftventricularsystolicanddiastolicsynchronicity.MethodsTwentyandsixhealthysubjectswerestudiedbypulsedDTI.Theseptalandlateral,anteriorandinferiorwallsoftheleftventricleweredisplayedrespectively,andbasalandmiddlesegmentsofeachwallwereselectedformyocardialmotionspectrumsampling.DTIparameterswere;peaksystolicmyocardialvelocity(s),regionalpre-ejectionperiod(PEP),timetothepeakofswave(Ts),regionalejectiontime(ET);peakearlydiastolicvelocity(e),peaklatediastolicvelocity(a),e/aratio,timetothebeginningofewave(QE),timetothepeakofewave(Te)andregionalisovolumicrelaxationtime(IVRT).ResultsTheeande/aweresignificantlydifferentamongbasalsegments,andsande/aweresignificantlydifferentamongmiddlesegments,withthehighestvalueinlateralsegmentsandthelowestvalueinseptalsegments.Thes,eandawereallsignificandyhigherinbasalsegmentsthanmiddlesegments.Noneofthesystolictimeintervals(PEP,TsandET)anddiastolictimeintervals(QE,TeandIVRT)weresignificantlydifferentamongbasalsegmentsandmiddlesegments,neitherweretheywhenbasalsegmentwascomparedwithmiddlesegment.ConclusionsInnormalsubjects,thelongitudinalmyocardialsystolicanddiastolicvelocitiesoftheleftventriclearenothomogeneous,butthecontractionandrelaxationarehighlysynchronized.PulsedDTIcanbeusedtoquantitativelyanalyzethesystolicanddiastolicsynchronicityoftheheart.

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简介：Thisstudyinvestigatedtheeffectofcatheter-basedrenalsympatheticdenervation(RD)onleftventricularhypertrophy(LVH)andsystolicanddiastolicfunctioninpatientswithresistanthypertension.LVHanddiastolicdysfunctionareassociatedwithelevatedsympatheticactivityandincreasedmorbidityandmortality.TheeffectofRDonLVHandLVfunctionisunclear.MethodsandResultsForty-sixpatientsunderwentbilateralRD,and18patientsservedascontrols.Transthoracicechocardiographywasperformedatbaseline,andafter1monthand6months.Besidesreductionofsystolicanddiastolicbloodpressure(-22.5/-7.2mmHgat1monthand-27.8/-8.8mmHgat6months,P<0.001ateachtimepoint),RDsignificantlyreducedmeaninterventricularseptumthicknessfrom14.1±1.9mmto13.4±2.1mmand12.5±1.4mm(P=0.007),andLVmassindexfrom53.9±15.6g/m(2.7)(112.4±33.9g/m(2))to47.0±14.2g/m(2.7)(103.6±30.5g/m(2))and44.7±14.9g/m(2.7)(94.9±29.8g/m(2))(P<0.001)at1monthand6months,respectively.ThemitralvalvelateralE/E'decreasedafterRDfrom9.9±4.0to7.9±2.2at1monthand7.4±2.7at6months(P<0.001),indicatingreductionofLVfillingpressures.Isovolumicrelaxationtimeshortened(baseline109.1±21.7msvs.85.6±24.4msat6months,P=0.006),whereasejectionfractionsignificantlyincreasedafterRD(baseline:63.1±8.1%vs.70.1±11.5%at6months,P<0.001).Nosignificantchangeswereobtainedincontrolpatients.ConslusionsBesidestheknowneffectonbloodpressure,ourstudyshowedforthefirsttimethatRDsignificantlyreducesLVmassandimprovesdiastolicfunction,whichmighthaveimportantprognosticimplicationsinpatientswithresistanthypertensionathighcardiovascularrisk.

简介：FollowingreparativesurgeryfortetralogyofFallotorcriticalpulmonarystenosis(PS),patientsfrequentlypresentwithsevererightventricular(RV)volumeoverloadduetopulmonaryregurgitation,resultingindecreasedRVfunction.Surgicalpulmonaryvalvereplacement(PVR)isknowntoimproveRVfunction,butchangesinleftventricular(LV)functionafterPVRhaverarelybeendescribed.WesoughttodeterminethemidtermresultsregardingLVsystolicfunctionafterPVRusingcardiacMRIin40consecutivepatientswithrepairedTOF(31patients)orPS(9patients)withanageof29±9yearswhounderwentPVRfrom2006to2011atasinglecenter.CardiacMRIRVandLVvolumesbeforeandafterPVRwereanalyzed.Demographics,clinicalvariables,cardiopulmonarybypassduration,andmedicationswerereviewed.LVejectionfraction(LVEF)increasedfrom(54±8)to(57±6)%(P=0.02).BeforePVR,26patientshaddepressedLVEFof(49±5)%(range36–54%).Inthisgroup,LVEFincreasedby(7±7)%(P<0.0001)afterPVR.LowLVEFbeforePVRwascorrelatedwithincreasedLVEFafterPVR(regressioncoefficient-0.7,R2=0.59,P<0.0001).Demographics,medications,priorpregnancies,andcardiopulmonarybypassdurationhadnoeffectonLVEFafterPVR.TheincreaseinLVEFwasmostsignificantinpatientswithlowpre-PVRLVEF.

简介：Arrhythmogenicrightventriculardysplasia/cardiomyopathy(ARVD/C)ischaracterizedbyfibro-fattyreplacementoftherightventricle.However,thefeasibilityandsignificanceofmyocardialfibrosisdetec-tedbydelayedenhancement(DE)using3.0Tmagneticresonanceimaging(MRI)in.ARVD/Cisseldomlystudied.MethodsTwenty-sevenconsecutivepatientswereprospectivelyevaluatedforARVD/C.Magneticreso-nanceimagingwasperformedona3.0Tscanner.Tenminutesafterintravenousadministrationof0.2mmol/kgofgadodiamide,DE-MRIwasobtained.DiagnosisofARVD/CwasbasedupontheTaskForcecriteriaandin-cludedMRIfindings.ResultsSeventeen(59%)of27patientsmettheTaskForcecriteriaforARVD/C.Rightven-tricleDEwasfoundinall(100%)ARVD/Cpatientscomparedwithnone(0%)ofthe10patientswithoutARVD/C(P<0.001).AdditionalleftventricularDEwasfoundin8/17ARVD/Cpatientswhilewithoutleftventricularmor-phologicalandfunctionalabnormalitiesdetectedbyechocardiographyorMRI.ConclusionsDEusing3.0TMRIcouldeffectivelydetectmyocardialfibrosisintherightandleftventricularmyocardiuminARVD/Cpatients.DetectionofmyocardialfibrosismayhaveanimportantclinicalsignificanceinARVD/Cdiagnosis.Histologicalleftventriclein-volvementmaybeeasilymissedbyechocardiography.