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Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy

Steven A Muller1, Alessio Gasperetti2, Laurens P Bosman3

  • 1Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands.

Journal of the American College of Cardiology
|May 20, 2023
PubMed

Insights

Prioritizing relatives at higher risk for arrhythmogenic right ventricular cardiomyopathy (ARVC) can improve patient care. Symptomatic individuals, those aged 20-30, and borderline ARVC cases show increased probability of developing definite ARVC.

Area of Science:

  • Cardiology
  • Genetics
  • Clinical Medicine

Background:

  • Clinical guidelines recommend regular screening for arrhythmogenic right ventricular cardiomyopathy (ARVC) in at-risk relatives.
  • This screening poses a significant burden on clinical resources.
  • Prioritizing individuals based on their likelihood of developing ARVC could enhance patient care efficiency.

Purpose of the Study:

  • To identify predictors of ARVC development over time in at-risk relatives.
  • To determine the probability of ARVC development in this population.
  • To inform more personalized screening strategies.

Main Methods:

  • Included 136 relatives from the Netherlands Arrhythmogenic Cardiomyopathy Registry without definite ARVC.
  • Classified subjects into "possible ARVC" and "borderline ARVC" groups.
  • Utilized Cox regression and multistate modeling, with replication in an Italian cohort.

Main Results:

  • After a median follow-up of 8.1 years, 33% developed definite ARVC.
  • Symptomatic individuals and those aged 20-30 had a higher hazard of developing ARVC.
  • Borderline ARVC cases showed a significantly higher probability of developing definite ARVC compared to possible ARVC cases.

Conclusions:

  • Symptomatic relatives, those aged 20-30, and those with borderline ARVC are at higher risk for definite ARVC.
  • These findings support tailored follow-up schedules.
  • Personalized monitoring may optimize resource allocation and patient outcomes.
Abstract

Keywords:
ARVCfamily screeningpredictorsscreening intervalventricular arrhythmia

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