rsna ac 2011definitiva
TRANSCRIPT
Cardiac magnetic resonance in arrhythmogenic cardiomyopathy. A multicenter study.
BEGOÑA I. MUÑOZ 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 3
AUTHOR BLOCK
Unidad de imagen cardiaca ERESA.1Unidad de muerte súbita familiar.2Servicio de cardiología.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 2006
Left ventricular late gadolinium enhancement is a finding that allows AC diagnosis with better sensitivity and especifity than other imaging parameters.
OBJECTIVE
We aim to describe in this setting using cardiac magnetic resonance imaging (CMR) :
Patterns of ventricular involvement
Patterns of late gadolinium enhancement (LGE)
(Exon 24 DSP Q1866X, Exon 23DSPE1039fs)
METHODS
STUDY DESIGN
Retrospective study reviewing records from the magnetic resonance data base (Filemaker Pro, versión 8.1) of 3 hospitals ( 2006-2010)
Inclusión 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
METHODS
CLINICAL DIAGNOSIS
Clasical 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.
METHODS
CMR PROTOCOL
Cine 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 58º, 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
METHODS
Turbo 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
METHODS
GENETIC SUDY
Screening 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.
METHODS
VARIABLES
Presence 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 morphology
LEFT AC
CLINICAL EVOLUTION
LEFT AC
CT STUDY
ICD implant, control CT
LEFT AC
FIRST DEGREE RELATIVES STUDY
Pathological 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 STUDY
LEFT AC
LEFT AC
FIRST DEGREE RELATIVES STUDY
LGE 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
A A
BTSE t1 Haste irm
BIVENTRICULAR AC
E1039fs desmoplakin
CARRIER E1039fs desmoplakin
Cine imaging in proband
Viability sequences in first degree relative
36 years male ,resuscitated sudden death
Subtricuspid aneurysm, with late gadolinium enhancement , normal RV and LV volumes and function.
BIVENTRICULAR AC
CMR STUDY IN PROBAND
Epicardial LGE anterior, lateral, inferior in basal, middle and apical regions .
BIVENTRICULAR AC
CMR STUDY IN PROBAND
RESULTS
BASELINE CHARACTERISTICS OF POPULATION SAMPLE
RVAC LVAC BVAC
N:26Familiar studysymptoms
Syncopepalpitationsdyspnoea SVT or sudden death
Males:17pAge: 40+16Meet TFC
199420002010
3p with normal RVTDVI and EF
RESULTS
PATTERNS OF BIVENTRICULAR INVOLVEMENT
Impaired segmental contractility
Score of biventricular involvementLV RV
Dysfunction
Dilatation
Late gadolinium enhancement
Score= ∑ of traits
RESULTS
Number of patients
Patients number
BIVENTRICULAR INVOLVEMENT SCORE
PATTERNS OF BIVENTRICULAR INVOLVEMENT
Average:0,46 +1,6
N:26p
RESULTS
19 (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 INVOLVEMENT
Number of patients
24p
19p
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 mutation
GENETIC SUDY
Distribution of traits in population sample
RESULTS
Number of patients
24
1313 13 13
32
LVEF<40%
75%
RESULTS
10p
4p4p
Patterns of late gadolinium enhancement
75%
RESULTS
Patterns of late gadolinium enhancement
17p
7p
15 p
15p
9p
LIMITATIONS
Retrospective 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