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  • [email protected] magnetic resonance in arrhythmogenic cardiomyopathy. A multicenter study.

  • BEGOA I. MUOZ MD1,2; Esther Zorio,2,3 MD,PhD; Jordi Estornell 1, MD,PhD; Alicia Maceira 1, MD,PhD; Fernando Mas-Estelles 1, MD; Pablo Nogues-Melendez 1, MD; Almudena Lucas-Perez 1, MD; Maria pilar lopez-lereu 1, MD; Diana Domingo-valero 3AUTHOR BLOCKUnidad de imagen cardiaca ERESA.1Unidad de muerte sbita familiar.2Servicio de cardiologa.3 .Hospital universitari i politecnic la FE.Valencia

  • BACKGROUND

    Biventricular (BVAC) and left dominant (LDAC) forms had recently been included in the spectrum of arrhythmogenic cardiomyopathy (AC).

    Sen-Chowdhry S, et al .Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.J Am Coll Cardiol. 2008 Dec 16; 52(25):2175-87.Sen-Chowdhry S et al. Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype. J Am Coll Cardiol 2006Left ventricular late gadolinium enhancement is a finding that allows AC diagnosis with better sensitivity and especifity than other imaging parameters.

  • OBJECTIVEWe aim to describe in this setting using cardiac magnetic resonance imaging (CMR) :Patterns of ventricular involvementPatterns of late gadolinium enhancement (LGE)

  • (Exon 24 DSP Q1866X, Exon 23DSPE1039fs)

    METHODSSTUDY DESIGNRetrospective study reviewing records from the magnetic resonance data base (Filemaker Pro, versin 8.1) of 3 hospitals ( 2006-2010)

    Inclusin criteria : 1. Imaging diagnosis of MCA made empirically by radiologist 2. Clinical diagnosis of MCA made by cardiologist.

    Patients without clinical diagnosis of AC are excluded

  • METHODSCLINICAL DIAGNOSISClasical forms of AC: Based on Task Force Criteria Biventricular and left forms of AC: Epicardial late gadolinium enhancement ( LGE) in left ventricle (LV) and also clinical diagnosis in a first degree relative.Index cases of biventricular or left dominant forms:Epicardial LGE and also confirmatory mutation in desmosomal gene.

  • METHODSCMR PROTOCOLCine imaging in LV using a breath hold steady state free precession sequence ( FOV: 33-35 cm Thick: 8mm, RT 2,8, ET: 1,2 ms flip angle 58, Phases:20 ) in 2, 3, and 4 chamber long axis plane as well as short axis plane from base to apex.Cine imaging in RV: With the same sequence in outflow tract and 4 and 2 chambers ( 6-8 slices)Blackblood imaging with and without fat saturation in same planes as cine imaging using a breath-held double-inversion recovery fast spin echo sequence (FOV = 28-34 cm, Thick = 5 mm, TR = 2 heartbeats,TE = 41 ms, Matrix = 256 256

  • METHODSTurbo Flash (Turbo fast low angle shot) Viabilility sequences: (Segmented, RT :700ms, ET:1.55 ms, Flip angle:45, matriz 256 -192, FOV: 340 - 78 mm, grosor de thick :8 mm, 2 heart beats ) : in same planes as cine imaging adquired 5-8 minutes after IV administration of 0.1 mol/kg de gadolinium-DTPA.CMR ANALYSIS of volumes and ejection fraction was made with QMASS 6.1.5 for windows ( Medis).CMR PROTOCOL

  • METHODSGENETIC SUDYScreening of mutations in 5 main desmosomal genes (plakoglobin, plakofilin-2, desmoglein-2, desmocolin-2 and desmoplaKin) in periferical blood ADN by conventional secuencing with ABI Prism 3100 sequencer ( Applied Biosystems).Causative mutation: (In index cases) were considered those previously described or another news that cause significant changes in protein structure and function.Confirmatory mutation: (in relatives) Those previously identified in index case.

  • METHODSVARIABLESPresence of late gadolinium enhancement (LGE) in left ventricle (LV) and right ventricle (RV);

    Biventricular dilatation (LVEDVi 98ml/m2 and RVEDi 100ml/m2.

    Dysfunction: LV ejection fraction (LVEF) 55% and RV EF 45%Impaired segmental contractility in RV ( aneurysms or diastolic bulging) and LV.

  • LEFT AC CMR STUDY OF PROBAND First CMR diagnosis of myocarditis

  • Six months later, syncopal ventricular tachycardia with right bundle branch morphologyLEFT AC CLINICAL EVOLUTION

  • LEFT AC CT STUDY ICD implant, control CT

  • LEFT AC FIRST DEGREE RELATIVES STUDYPathological EKG, with subepicardial ischemia V4-V6

  • LV not dilated ( IVTDVI 93ml/m2) EF:42%.RV not dilated (IVTDVD 71ml/m2) EF: 53%.FIRST DEGREE RELATIVES STUDYLEFT AC

  • LEFT AC FIRST DEGREE RELATIVES STUDYLGE in LV: inferior,inferolateral,lateral, anterior at basal, middle and apical regions

  • A) Basal short axis turbo-flash viability sequences with and without fat supression: epicardial fibrosis.B) CT images MPR in basal short axis showing epicardial fibrofatty infiltration.LEFT AC AABTSE t1Haste irm

  • BIVENTRICULAR ACE1039fs desmoplakinCARRIER E1039fs desmoplakinCine imaging in proband Viability sequences in first degree relative36 years male ,resuscitated sudden death

  • Subtricuspid aneurysm, with late gadolinium enhancement , normal RV and LV volumes and function. BIVENTRICULAR ACCMR STUDY IN PROBAND

  • Epicardial LGE anterior, lateral, inferior in basal, middle and apical regions .BIVENTRICULAR ACCMR STUDY IN PROBAND

  • RESULTSBASELINE CHARACTERISTICS OF POPULATION SAMPLERVACLVACBVAC

    N:26Familiar studysymptomsSyncopepalpitations

    dyspnoea SVT or sudden deathMales:17pAge: 40+16Meet TFC1994200020103p with normal RVTDVI and EF

  • RESULTSPATTERNS OF BIVENTRICULAR INVOLVEMENTImpaired segmental contractilityScore of biventricular involvementLVRVDysfunctionDilatationLate gadolinium enhancementScore= of traits

  • RESULTSNumber of patientsPatients numberBIVENTRICULAR INVOLVEMENT SCOREPATTERNS OF BIVENTRICULAR INVOLVEMENTAverage:0,46 +1,6N:26p

  • RESULTS19 (79%), patients with RV involvement.

    13 (54%) pacientes with RVTDVi>100 ml/m2 and 6 patients (25%) without dilatation only aneurysms or diastolic bulging.PATTERNS OF VENTRICULAR INVOLVEMENTNumber of patients24p19p

    Grfico1

    613RV involvement

    203LV involvement

    normal TDVi

    increased TDVi

    Columna1

    Hoja1

    Columna2normal TDViincreased TDViColumna1

    RV involvement613

    LV involvement203

    Para cambiar el tamao del rango de datos del grfico, arrastre la esquina inferior derecha del rango.

  • RESULTS 11 patients (42%), had genetic study five of them had only lV involvement and six were biventricular forms Six desmoplakin mutations ,Two double mutations desmoplakin and desmocolin and a patient with two variants (desmoplakin and plakofilin)Two patients with biventricular forms had not confirmatory mutationGENETIC SUDY

  • Distribution of traits in population sample RESULTSNumber of patients241313131332LVEF98

    Columna5

    FE>40

    Columna2

    Columna3

    Columna1

    Hoja1

    Columna4Columna5FE>40Columna2Columna3Columna1

    LVLGE26

    LVEF 983

    Para cambiar el tamao del rango de datos del grfico, arrastre la esquina inferior derecha del rango.

  • 75%RESULTS10p4p4p Patterns of late gadolinium enhancement

    Grfico1

    12534

    12 p

    2p

    4p

    epicardial

    transmural

    intramiocardial

    several patterns

    5p

    Sheet1

    epicardial12

    transmural5

    intramiocardial3

    several patterns4

  • 75%RESULTSPatterns of late gadolinium enhancement17p7p15 p15p9p

    Grfico1

    16inferolateralinferolateral

    15inferiorinferior

    15laterallateral

    9anterioranterior

    7septalseptal

    Serie 1

    Columna1

    Columna2

    Hoja1

    Serie 1Columna1Columna2

    inferolateral16

    inferior15

    lateral15

    anterior9

    septal7

    Para cambiar el tamao del rango de datos del grfico, arrastre la esquina inferior derecha del rango.

  • LIMITATIONSRetrospective design : Parameters like late gadolinium enhancement in RV or diastolic bulging are technically demanding and may be underestimated with this design.Selection bias: Inclusion is mainly done by CMR, therefore population sample could have major structural involvement .

  • The most frequent abnormal finding is LV LGE, while the least frequent is LV dilatation.LV involvement is a frequent finding in this sample of AC.LGE was more frequently subepicardial and located in inferior and inferolateral walls.Biventricular involvement with right predominance is the most frequent finding in this sample of AC.CONCLUSIONS

    *****Varon de 36 aos se solicit desde el ambulatorio de zona un estudio de estrs con dipiridamol por clnica inespecifica de dolor toracico. Estrs negativo, volmenes normales de ambos ventriculos y Fe ligeramente deprimida 53 de VI y 48 de VD. En ese momento y en ese contexto clinico valor la contratilidad segmentaria de vd como normal aunque ahora me parece que hay microaneurismas como signo de adelgazamiento de la pared los Y en las secuencias de viabilidad rtg epicardico y en septo y cara inferior apical. Posible diagnstico de miocarditis.6 meses despues debut como una taquicardia ventriuclar sincopal lo que nos hizo hizo plantearmos el diagnstico inicial de miocarditis y pensamos en algn tipo de miocardiopata por lo que realizamos estudio familiarSe implanto un DAI terapeutico y no podemos realizar el seguimiento con RM aunque estamos trabajando con enfermos con Mp en el caso de los desfibriladores el dispositivo es demasiado grande y los artefactos impiden la correcta valoracin por lo que no se realizan. Se podra plantear como alternativa para el seguimeinto el TC que nos va a permitir tb valorar funcin y alteraciones de la contractilidad segmentaria

    La evolucin clnica del caso y el debut como TV tarda hizo que nos cuestionaramos el diagnstico inicial de miocarditis y pensamos que podia ser algn tipo de mio cardiopata planteamos en este contexto un estudio familiar.*Se planteo estudio de muerte sbita familiar y encontramos en los dos casos mutacin en dm

    Laura:Low voltages, PR 200, QRS 140 (II) and 80 (V1), QTc 412Epsilon waves in the inferior leadsT negative precordial leads

    Damian:Pleomorphic VT with inferior axis and RBBBLow voltages, enlarged LAPR 200, QRS 120QTc 500 (amiodarone)Epsilon waves in the inferior leads, V1-6T negative precordial leads.

    **Nos planteamos si la infiltracin de vi era grasa o fibrosis .En estas imgenes que corresponden a cortes medio-basales den VI Observamos en secuencias tse t1 un borde epicrdico uniforme con una capa fina de grasa que no parece infiltrar el miocardio.En secuencias stir no observamos disminucin importante del grosor miocardico.Esto no es igual a lo que observamos en TC, vemos aqu un borde irregular con un miocardio muy fino similar al borde miocardico en las secuencias de viabilidad.Igual que sucede en tc no es posible diferenciar en secuencias de viabilidad nodecuadamente entre densidad grasa y fibrosis porque estn en continuidad en TC.

    Por imagen pensamos que la afectacin de vI es fundamentalmente fibrosa.*En este caso observamos tambin volmenes y FE de ambos ventriculos normales ***Ningn paciente con DAVI cumpla TFC, 2 enfermos con DAVI (18%) fueron diagnosticados previamente de miocarditis. Observamos realce epicrdico de gadolinio (RG) en ventrcul****