title: Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced.
abstract: BACKGROUND
  The traditional description of the Triangle of Dysplasia in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) predates genetic testing and excludes biventricular phenotypes.
  
  
  RESULTS
  We analyzed Cardiac Magnetic Resonance (CMR) studies of 74 mutation-positive ARVD/C patients for regional abnormalities on a 5-segment RV and 17-segment LV model. The location of electroanatomic endo- and epicardial scar and site of successful VT ablation was recorded in 11 ARVD/C subjects. Among 54/74 (73%) subjects with abnormal CMR, the RV was abnormal in almost all (96%), and 52% had biventricular involvement. Isolated LV abnormalities were uncommon (4%). Dyskinetic basal inferior wall (94%) was the most prevalent RV abnormality, followed by basal anterior wall (87%) dyskinesis. Subepicardial fat infiltration in the posterolateral LV (80%) was the most frequent LV abnormality. Similar to CMR data, voltage maps revealed scar (<0.5 mV) in the RV basal inferior wall (100%), followed by the RV basal anterior wall (64%) and LV posterolateral wall (45%). All 16 RV VTs originated from the basal inferior wall (50%) or basal anterior wall (50%). Of 3 LV VTs, 2 localized to the posterolateral wall. In both modalities, RV apical involvement never occurred in isolation.
  
  
  CONCLUSIONS
  Mutation-positive ARVD/C exhibits a previously unrecognized characteristic pattern of disease involving the basal inferior and anterior RV, and the posterolateral LV. The RV apex is only involved in advanced ARVD/C, typically as a part of global RV involvement. These results displace the RV apex from the Triangle of Dysplasia, and provide insights into the pathophysiology of ARVD/C.
authors.affiliation: Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands; Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Anneline S J M
authors.initials: AS
authors.lastname: Te Riele
authors.forename: Cynthia A
authors.initials: CA
authors.lastname: James
authors.forename: Binu
authors.initials: B
authors.lastname: Philips
authors.forename: Neda
authors.initials: N
authors.lastname: Rastegar
authors.forename: Aditya
authors.initials: A
authors.lastname: Bhonsale
authors.forename: Judith A
authors.initials: JA
authors.lastname: Groeneweg
authors.forename: Brittney
authors.initials: B
authors.lastname: Murray
authors.forename: Crystal
authors.initials: C
authors.lastname: Tichnell
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Judge
authors.forename: Jeroen F
authors.initials: JF
authors.lastname: Van Der Heijden
authors.forename: Maarten J M
authors.initials: MJ
authors.lastname: Cramer
authors.forename: Birgitta K
authors.initials: BK
authors.lastname: Velthuis
authors.forename: David A
authors.initials: DA
authors.lastname: Bluemke
authors.forename: Stefan L
authors.initials: SL
authors.lastname: Zimmerman
authors.forename: Ihab R
authors.initials: IR
authors.lastname: Kamel
authors.forename: Richard N W
authors.initials: RN
authors.lastname: Hauer
authors.forename: Hugh
authors.initials: H
authors.lastname: Calkins
authors.forename: Harikrishna
authors.initials: H
authors.lastname: Tandri
mesh_terms: D000200:Action Potentials; D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D015142:Baltimore; D017115:Catheter Ablation; D002921:Cicatrix / Q000473:pathology / Q000503:physiopathology; D022062:Electrophysiologic Techniques, Cardiac; D005260:Female; D020022:Genetic Predisposition to Disease; D006352:Heart Ventricles / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009426:Netherlands; D010641:Phenotype; D011237:Predictive Value of Tests; D012042:Registries; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D016896:Treatment Outcome; D055815:Young Adult
keywords: arrhythmogenic right ventricular dysplasia/cardiomyopathy; electroanatomic mapping; genetics; implantable cardioverter defibrillator; magnetic resonance imaging; phenotype; ventricular tachcardia
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