Key result
Omitting genetic criteria delays ARVC diagnosis in ~10% of patients, though variants fail to predict arrhythmias.
Why the study?
The value of genetic testing in diagnosing ARVC and its relation to first malignant ventricular arrhythmia was unclear.
Does removing the genetic criterion from the 2010 Task Force Criteria affect the diagnosis and risk stratification of malignant ventricular arrhythmia in patients with ARVC?
Cohort (n=402)
Yes
Does removing the genetic criterion from the 2010 Task Force Criteria affect the diagnosis and risk stratification of malignant ventricular arrhythmia in patients with ARVC?
Hazard Ratio: 1.5 (95% CI 0.8–2.88)
p-value: p=0.212
Removing the genetic criterion from the ARVC Task Force Criteria leads to a loss or delay of diagnosis in 10% of patients, though the associated risk of malignant ventricular arrhythmia during this delay is low (1%).
May warrant retaining genetic criterion to prevent ARVC diagnostic delays; leaves open its role in arrhythmia risk stratification.
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by risk of malignant ventricular arrhythmia (VA). ARVC is diagnosed using an array of clinical tests in the consensus-based Task Force Criteria (TFC), one of which is genetic testing. OBJECTIVE: The purpose of this study was to investigate the value of genetic testing in diagnosing ARVC and its relation to the occurrence of first malignant VA. METHODS: A multicenter cohort of patients with ARVC was scored using the revised 2010 TFC with and without genetic criterion, analyzing any resulting loss or delay of diagnosis. Malignant VA was defined as sustained VA (≥30-second duration at ≥100 beats/min or requiring intervention). RESULTS: We included 402 subjects (221 [55%] male; 216 [54%] proband; 40 [27-51] years old at presentation) who were diagnosed with definite ARVC. A total of 232 subjects (58%) fulfilled genetic testing criteria. Removing the genetic criterion caused loss of diagnosis in 18 patients (4%) (11 of 216 probands [5%] and 7 of 186 relatives [4%]) and delay of diagnosis by ≥30 days in 22 patients (5%) (21 of 216 probands [10%] and 1 of 186 relative [0.5%]). A first malignant VA occurred in no patients who lost diagnosis and in 3 patients (3 of 216 probands [1%] and no relatives) during their diagnosis delay, none fatal. Time-to-event analysis showed no significant difference in time from diagnosis to malignant VA between pathogenic variant carriers and noncarriers. CONCLUSION: Disregarding the genetic criterion of the TFC caused loss or delay of diagnosis in 10% of patients with ARVC (40 of 402). Malignant VA occurred in 1% of cases with lost or delayed diagnosis (3 of 402), none fatal.
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Brouwer et al. (2022) conducted a cohort in Arrhythmogenic right ventricular cardiomyopathy (n=402). Pathogenic variant carrier vs. Noncarrier was evaluated on First malignant ventricular arrhythmia (HR 1.50, 95% CI 0.80-2.88, p=0.212). Disregarding the genetic criterion of the Task Force Criteria caused a loss or delay of diagnosis in 10% of patients with ARVC, and carrying a pathogenic variant was not significantly associated with malignant ventricular arrhythmias (HR 1.50).
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