Article Impact Level: HIGH Data Quality: STRONG Summary of Journal of the American College of Cardiology, 82(3), 214–225. https://doi.org/10.1016/j.jacc.2023.05.005 Dr. Steven A. Muller et al.
Points
- A retrospective study examined predictors and probability of developing arrhythmogenic right ventricular cardiomyopathy (ARVC) among at-risk relatives.
- Symptomatic relatives, individuals aged 20 to 30, and those with borderline ARVC at baseline were more likely to develop definite ARVC.
- The study included 136 relatives from the Netherlands Arrhythmogenic Cardiomyopathy Registry, and the results were validated in an Italian cohort.
- After a median follow-up of 8.1 years, 33% of the relatives progressed to definite ARVC.
- Regular screenings tailored to the identified predictors can optimize patient care, with higher-risk individuals benefitting from more frequent monitoring and lower-risk individuals requiring less frequent monitoring.
Summary
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial condition associated with ventricular arrhythmias and heart failure. This retrospective study aimed to identify predictors and assess the probability of ARVC development among at-risk relatives. 136 relatives without definite ARVC at baseline were included from the Netherlands Arrhythmogenic Cardiomyopathy Registry, and results were validated in an Italian cohort. Cox regression and multistate modeling were employed to analyze the data.
At baseline, 93 subjects (68%) had possible ARVC, and 43 (32%) had borderline ARVC. After a median follow-up of 8.1 years, 41 individuals (33%) had developed definite ARVC. Symptomatic subjects and those aged 20 to 30 demonstrated a higher likelihood of developing definite ARVC independent of their baseline phenotype. Furthermore, individuals with borderline ARVC had a significantly higher probability of developing definite ARVC than those with possible ARVC (1-year probability: 13% vs. 0.6%; 3-year probability: 35% vs. 5%). These findings were consistent when validated in an unrelated Italian cohort.
This study emphasizes that symptomatic relatives aged 20 to 30 and those with borderline ARVC are at a higher risk of developing definite ARVC. Tailoring the frequency of follow-up screenings based on these predictors may optimize patient care, ensuring that higher-risk individuals receive more frequent monitoring. Conversely, lower-risk individuals may require less frequent monitoring. The low incidence of ventricular arrhythmias and heart failure in relatives without definite ARVC supports the benefit of regular screening. Future studies should explore additional genetic and non-genetic factors that may influence disease penetrance and refine risk stratification for ARVC development.
Link to the article: https://www.jacc.org/doi/abs/10.1016/j.jacc.2023.05.005
References Muller, S. A., Gasperetti, A., Bosman, L. P., Schmidt, A. F., Baas, A. F., Amin, A. S., Houweling, A. C., Wilde, A. A. M., Compagnucci, P., Targetti, M., Casella, M., Calò, L., Tondo, C., Van Der Harst, P., Asselbergs, F. W., Van Tintelen, J. P., Oerlemans, M. I. F. J., & Te Riele, A. S. J. M. (2023). Individualized family screening for arrhythmogenic right ventricular cardiomyopathy. Journal of the American College of Cardiology, 82(3), 214–225. https://doi.org/10.1016/j.jacc.2023.05.005
