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Penetrance of Mutations in Plakophilin-2 Among Families With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Darshan Dalal, MD, MPH^_*, Cynthia James, ScM, PhD^_*, Rajiv Devanagondi, BA^_*, Crystal Tichnell, MGC^_*, April Tucker, MGC^_*, Kalpana Prakasa, MD^_*, Philip J. Spevak, MD, FACC, David A. Bluemke, MD, PhD^_*,, Theodore Abraham, MD, FACC^_*, Stuart D. Russell, MD, FACC^_*, Hugh Calkins, MD, FACC^_* and Daniel P. Judge, MD^_*,_*

^_* Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
Division of Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland
Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland

View larger version (27K): [in a new window]   Figure 1 Pedigrees of families with a PKP2 mutation. Circles and squares indicate women and men, respectively. Filling in the circles/squares indicates the phenotypes of individuals: white = unaffected; black = affected; blue = fulfill an incomplete set of task force criteria; and red = inadequate clinical information available. + indicates the presence of a PKP2 mutation and – indicates the absence thereof. Arrowhead indicates the proband of the family. Slanting bar indicates a deceased individual.

View larger version (17K): [in a new window]   Figure 2 Kaplan-Meier curves demonstrating the proportion of individuals free from: 1) symptoms, 2) diagnosis, 3) symptomatic ventricular arrhythmia, and 4) cardiac death among (A) all PKP2 mutation carriers and (B) all family members with a PKP2 mutation after exclusion of the probands. VT = ventricular tachycardia.