Clinical Features, Genetic Findings, and Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy: Data From a Brazilian Cohort

Abstract

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare inherited disease, causes ventricular tachycardia, sudden cardiac death, and heart failure (HF). We investigated ARVC clinical features, genetic findings, natural history, and the occurrence of life-threatening arrhythmic events (LTAEs), HF death, or heart transplantation (HF-death/HTx) to identify risk factors. METHODS: The clinical course of 111 consecutive patients with definite ARVC, predictors of LTAE, HF-death/HTx, and combined events were analyzed in the entire cohort and in a subgroup of 40 patients without sustained ventricular arrhythmia before diagnosis. RESULTS: The 5-year cumulative probability of LTAE was 30%, and HF-death/HTx was 10%. Predictors of HF-death/HTx were reduced right ventricle ejection fraction (HR: 0.93; P =0.010), HF symptoms (HR: 4.37; P =0.010), epsilon wave (HR: 4.99; P =0.015), and number of leads with low QRS voltage (HR: 1.28; P =0.001). Each additional lead with low QRS voltage increased the risk of HF-death/HTx by 28%. Predictors of LTAE were prior syncope (HR: 1.81; P =0.040), number of leads with T wave inversion (HR: 1.17; P =0.039), low QRS voltage (HR: 1.12; P =0.021), younger age (HR: 0.97; P =0.006), and prior ventricular arrhythmia/ventricular fibrillation (HR: 2.45; P =0.012). Each additional lead with low QRS voltage increased the risk of LTAE by 17%. In patients without ventricular arrhythmia before clinical diagnosis of ARVC, the number of leads with low QRS voltage (HR: 1.68; P =0.023) was independently associated with HF-death/HTx. CONCLUSIONS: Our study demonstrated the characteristics of a specific cohort with a high prevalence of arrhythmic burden at presentation, male predominance, younger age and HF severe outcomes. Our main results suggest that the presence and extension of low QRS voltage can be a risk predictor for HF-death/HTx in ARVC patients, regardless of the arrhythmic risk. This study can contribute to the global ARVC risk stratification, adding new insights to the international current scientific knowledge.

Prognostic Electrocardiographic Signs in Arrhythmogenic Cardiomyopathy

“…Multicenter retrospective study, 360 pts, year of publication 2008 [13] MACE p < 0.029 LQRSV Single-center prospective study, 111 pts, year of publication 2023 [14] Heart failure death and heart transplantation p = 0.010…”

“…Effectively, the low QRS voltage is an ECG marker of a high degree of fibrofatty infiltration or fibrosis, which also involves the left ventricle, and of a more severe clinical profile as well. A recent cohort study by Olivetti et al suggests that the presence and the extension of low QRS voltage can be an independent risk predictor associated with heart failure death and heart transplantation in ACM patients, regardless of the arrhythmic risk [14].…”