Individualized Family Screening for Arrhythmogenic RV Cardiomyopathy

Quick Takes

  • In a retrospective analysis of relatives of arrhythmogenic RV cardiomyopathy (ARVC) probands, median time to develop a new task force criterion for ARVC was 4.5 years and did not vary by clinical phenotype at index screening.
  • Age 20-30 years, presence of symptoms, and presence of borderline ARVC at screening visit predicted higher risk for development of definite ARVC, suggesting clinical screening may be individualized.
  • Only relatives with definite ARVC experienced ventricular arrhythmias or heart failure.

Study Questions:

What are the predictors for development of arrhythmogenic right ventricular cardiomyopathy (ARVC) over time among at-risk relatives of ARVC patients?


This retrospective study used the Netherlands Arrhythmogenic Cardiomyopathy Registry to identify all relatives ≥14 years old of ARVC patients who underwent recommended screening with electrocardiography, Holter monitoring, echocardiography, or cardiac magnetic resonance imaging. Based on the 2010 Task Force Criteria (TFC), relatives were classified as definite, possible, or borderline ARVC at each follow-up. Predictors for development of new TFC and development of definitive ARVC at follow-up were assessed. Results were validated in an unrelated Italian cohort.


This study included 136 relatives of ARVC patients from 66 families who did not have definite ARVC at first evaluation. Median age at first evaluation was 25.5 years. At first visit, 75% were asymptomatic, 68% were classified as possible ARVC, and 32% as borderline ARVC. Overall, 123 relatives were followed for a median of 8 years and 33% progressed to definite ARVC. Median time to develop a new TFC was 4.5 years, irrespective of baseline phenotype. Independent predictors for development of definite ARVC included 1) age between 20-30 years compared with age <20 years, 2) presence of symptoms, and 3) relatives with borderline ARVC at screening visit. These results were similar when applied to the Italian cohort with 49 patients. Relatives rarely developed ventricular arrhythmias or heart failure and these events were only observed in four relatives, all with definite ARVC.


In a retrospective study from a Dutch cohort of relatives of ARVC patients, presence of symptoms, age 20-30 years, or those with borderline ARVC at screening visit were more likely to progress to definite ARVC at follow-up. The 1-year risk for developing definite ARVC among relatives with borderline ARVC (11%) was similar to the 5-year risk for definite ARVC among relatives with possible ARVC (13%).


ARVC is a familial condition characterized by development of ventricular arrhythmias and heart failure. Diagnosis is made on the basis of 2010 TFC that classifies individuals as possible, borderline, or definite ARVC. Disease expression for the condition is highly variable with different individuals within the same family demonstrating different clinical phenotypes despite having identical genetic pathogenic variants. Current guidelines, however, do not take variable disease expression into account and provide blanket recommendations for screening due to paucity of data.

This study includes one of largest cohorts of ARVC relatives and provides more data on “who, how, and when” for ARVC screening. It suggests that relatives aged 20-30 years, those with symptoms, or those with borderline ARVC need more aggressive and frequent (possibly annual) screening. Similarly, screening for relatives with possible ARVC can be spaced out to possibly every 5 years. It also provides reassuring data that the risk for heart failure and ventricular arrhythmias is quite low and was only noted in relatives who had definite ARVC on screening, suggesting benefit for screening. Despite being among the largest cohorts of ARVC families, the sample size, however, was too homogenous to identify if genetic mutation altered this risk for ARVC development and data on exercise were not available. Accordingly, other studies need to evaluate the impact of other genetic and nongenetic modifiers that may impact disease penetrance.

Clinical Topics: Arrhythmias and Clinical EP, Cardiovascular Care Team, Congenital Heart Disease and Pediatric Cardiology, Heart Failure and Cardiomyopathies, Noninvasive Imaging, Prevention, Implantable Devices, Genetic Arrhythmic Conditions, SCD/Ventricular Arrhythmias, Atrial Fibrillation/Supraventricular Arrhythmias, CHD and Pediatrics and Arrhythmias, CHD and Pediatrics and Imaging, CHD and Pediatrics and Quality Improvement, Acute Heart Failure, Echocardiography/Ultrasound

Keywords: Arrhythmias, Cardiac, Arrhythmogenic Right Ventricular Dysplasia, Cardiomyopathies, Diagnostic Imaging, Echocardiography, Electrocardiography, Family, Genetics, Heart Failure, Phenotype, Risk Factors, Secondary Prevention, Young Adult

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