TY - JOUR
T1 - Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation
AU - Bhonsale, Aditya
AU - te Riele, Anneline S.J.M.
AU - Sawant, Abhishek C.
AU - Groeneweg, Judith A.
AU - James, Cynthia A.
AU - Murray, Brittney
AU - Tichnell, Crystal
AU - Mast, Thomas P.
AU - van der Pols, Michelle J.
AU - Cramer, Maarten J.M.
AU - Dooijes, Dennis
AU - van der Heijden, Jeroen F.
AU - Tandri, Harikrishna
AU - van Tintelen, J. Peter
AU - Judge, Daniel P.
AU - Hauer, Richard N.W.
AU - Calkins, Hugh
N1 - Publisher Copyright:
© 2017 The Authors
PY - 2017/6
Y1 - 2017/6
N2 - 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.
AB - 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.
KW - Arrhythmogenic right ventricular cardiomyopathy/dysplasia
KW - Cardiomyopathy
KW - Genotype
KW - Late onset
KW - Outcome
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U2 - 10.1016/j.hrthm.2017.02.013
DO - 10.1016/j.hrthm.2017.02.013
M3 - Article
C2 - 28215569
AN - SCOPUS:85018908978
SN - 1547-5271
VL - 14
SP - 883
EP - 891
JO - Heart Rhythm
JF - Heart Rhythm
IS - 6
ER -