TY - JOUR
T1 - Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy
AU - Muller, Steven A
AU - Gasperetti, Alessio
AU - Bosman, Laurens P
AU - Schmidt, Amand F
AU - Baas, Annette F
AU - Amin, Ahmad S
AU - Houweling, Arjan C
AU - Wilde, Arthur A M
AU - Compagnucci, Paolo
AU - Targetti, Mattia
AU - Casella, Michela
AU - Calò, Leonardo
AU - Tondo, Claudio
AU - van der Harst, Pim
AU - Asselbergs, Folkert W
AU - van Tintelen, J Peter
AU - Oerlemans, Marish I F J
AU - Te Riele, Anneline S J M
N1 - Publisher Copyright:
© 2023 American College of Cardiology Foundation
PY - 2023/7/18
Y1 - 2023/7/18
N2 - BACKGROUND: Clinical guidelines recommend regular screening for arrhythmogenic right ventricular cardiomyopathy (ARVC) to monitor at-risk relatives, resulting in a significant burden on clinical resources. Prioritizing relatives on their probability of developing definite ARVC may provide more efficient patient care.OBJECTIVES: The aim of this study was to determine the predictors and probability of ARVC development over time among at-risk relatives.METHODS: A total of 136 relatives (46% men, median age 25.5 years [IQR: 15.8-44.4 years]) from the Netherlands Arrhythmogenic Cardiomyopathy Registry without definite ARVC by 2010 task force criteria were included. Phenotype was ascertained using electrocardiography, Holter monitoring, and cardiac imaging. Subjects were divided into groups with "possible ARVC" (only genetic or familial predisposition) and "borderline ARVC" (1 minor task force criterion plus genetic or familial predisposition). Cox regression was performed to determine predictors and multistate modeling to assess the probability of ARVC development. Results were replicated in an unrelated Italian cohort (57% men, median age 37.0 years [IQR: 25.4-50.4 years]).RESULTS: At baseline, 93 subjects (68%) had possible ARVC, and 43 (32%) had borderline ARVC. Follow-up was available for 123 relatives (90%). After 8.1 years (IQR: 4.2-11.4 years), 41 (33%) had developed definite ARVC. Independent of baseline phenotype, symptomatic subjects (P = 0.014) and those 20 to 30 years of age (P = 0.002) had a higher hazard of developing definite ARVC. Furthermore, patients with borderline ARVC had a higher probability of developing definite ARVC compared with those with possible ARVC (1-year probability 13% vs 0.6%, 3-year probability 35% vs 5%; P < 0.01). External replication showed comparable results (P > 0.05).CONCLUSIONS: Symptomatic relatives, those 20 to 30 years of age, and those with borderline ARVC have a higher probability of developing definite ARVC. These patients may benefit from more frequent follow-up, while others may be monitored less often.
AB - BACKGROUND: Clinical guidelines recommend regular screening for arrhythmogenic right ventricular cardiomyopathy (ARVC) to monitor at-risk relatives, resulting in a significant burden on clinical resources. Prioritizing relatives on their probability of developing definite ARVC may provide more efficient patient care.OBJECTIVES: The aim of this study was to determine the predictors and probability of ARVC development over time among at-risk relatives.METHODS: A total of 136 relatives (46% men, median age 25.5 years [IQR: 15.8-44.4 years]) from the Netherlands Arrhythmogenic Cardiomyopathy Registry without definite ARVC by 2010 task force criteria were included. Phenotype was ascertained using electrocardiography, Holter monitoring, and cardiac imaging. Subjects were divided into groups with "possible ARVC" (only genetic or familial predisposition) and "borderline ARVC" (1 minor task force criterion plus genetic or familial predisposition). Cox regression was performed to determine predictors and multistate modeling to assess the probability of ARVC development. Results were replicated in an unrelated Italian cohort (57% men, median age 37.0 years [IQR: 25.4-50.4 years]).RESULTS: At baseline, 93 subjects (68%) had possible ARVC, and 43 (32%) had borderline ARVC. Follow-up was available for 123 relatives (90%). After 8.1 years (IQR: 4.2-11.4 years), 41 (33%) had developed definite ARVC. Independent of baseline phenotype, symptomatic subjects (P = 0.014) and those 20 to 30 years of age (P = 0.002) had a higher hazard of developing definite ARVC. Furthermore, patients with borderline ARVC had a higher probability of developing definite ARVC compared with those with possible ARVC (1-year probability 13% vs 0.6%, 3-year probability 35% vs 5%; P < 0.01). External replication showed comparable results (P > 0.05).CONCLUSIONS: Symptomatic relatives, those 20 to 30 years of age, and those with borderline ARVC have a higher probability of developing definite ARVC. These patients may benefit from more frequent follow-up, while others may be monitored less often.
KW - ARVC
KW - family screening
KW - predictors
KW - screening interval
KW - ventricular arrhythmia
UR - http://www.scopus.com/inward/record.url?scp=85163421803&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2023.05.005
DO - 10.1016/j.jacc.2023.05.005
M3 - Article
C2 - 37210036
SN - 0735-1097
VL - 82
SP - 214
EP - 225
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 3
ER -