Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation

Aditya Bhonsale, Anneline S.J.M. te Riele, Abhishek C. Sawant, Judith A. Groeneweg, Cynthia A. James, Brittney Murray, Crystal Tichnell, Thomas P. Mast, Michelle J. van der Pols, Maarten J.M. Cramer, Dennis Dooijes, Jeroen F. van der Heijden, Harikrishna Tandri, J. Peter van Tintelen, Daniel P. Judge, Richard N.W. Hauer, Hugh Calkins

Research output: Contribution to journalArticlepeer-review

Abstract

Background The clinical profile of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) patients with late presentation is unknown. Objective The purpose of this study was to characterize the genotype, cardiac phenotype, and long-term outcomes of ARVC/D patients with late presentation (age ≥50 years at diagnosis). Methods Five hundred two patients with an ARVC/D diagnosis from Johns Hopkins and Utrecht Registries were studied and long-term clinical outcomes ascertained. Results Late presentation was seen in 104 patients (21%; 38% PKP2 carriers); 3% were ≥65 years at diagnosis. Sustained ventricular tachycardia was the major (43%) mode of presentation in patients with late presentation, whereas cardiac syncope was infrequent (P <.001). Those with late presentation were significantly less likely to harbor a known pathogenic mutation (53%; P =.005), have less precordial T-wave repolarization changes (P <.001), and have lower ventricular ectopy burden (P =.026). Over median 6-year follow-up, 68 patients with late presentation (65%) experienced sustained ventricular arrhythmias, with similar arrhythmia-free survival at 5-year follow up (P =.48). Left ventricular dysfunction and heart failure were seen in 24 (32%) and 15 patients (14%), respectively, without need for cardiac transplantation. In the late presentation cohort, male sex, pathogenic mutation, right ventricular structural disease, lack of family history, and electrophysiologic study inducibility were associated with increased arrhythmic risk. Conclusion One-fifth of all ARVC/D patients present after age 50 years, often with sustained ventricular tachycardia, and are less likely to have prior syncope, ECG changes, ventricular ectopy, or identifiable pathogenic mutation. In ARVC/D, late presentation does not confer a benign prognosis and is associated with high arrhythmic risk.

Original languageEnglish (US)
Pages (from-to)883-891
Number of pages9
JournalHeart Rhythm
Volume14
Issue number6
DOIs
StatePublished - Jun 2017

Keywords

  • Arrhythmogenic right ventricular cardiomyopathy/dysplasia
  • Cardiomyopathy
  • Genotype
  • Late onset
  • Outcome

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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