Beyond arrhythmias: Exploring heart failure in arrhythmogenic cardiomyopathy.

BACKGROUND

Arrhythmogenic cardiomyopathy (ACM) is a genetic heart muscle disease primarily associated with life-threatening ventricular arrhythmias. Improved arrhythmic risk stratification and therapies have enhanced survival, making heart failure (HF) an increasingly relevant clinical issue. This study aims to characterize HF in ACM patients and identify variables associated with its occurrence.

METHODS

This retrospective, single-center study included 657 ACM patients diagnosed according to the 2010 Revised Task Force Criteria and Padua criteria. HF was defined as hospitalization due to HF symptoms. Clinical, electrocardiographic, imaging and genetic data were compared between patients with and without HF.

RESULTS

HF occurred in 48 patients (7.3%). Those with HF were more often probands (p = 0.007) and showed more ECG abnormalities, including T-wave inversions in right (p = 0.004) and lateral leads (p < 0.001) and low QRS voltages in precordial and peripheral leads (p < 0.001). Genetic analysis revealed a higher prevalence of Desmoplakin (DSP) (p = 0.03) and Desmin (p = 0.002) genetic variants. Imaging showed increased ventricular volumes and reduced biventricular systolic function (p < 0.001). The arrhythmic burden was also higher (p = 0.022). Variables associated with HF occurrence were DSP genetic variants (OR = 3.08, p = 0.01), low QRS voltages in peripheral leads (OR = 3.76, p = 0.002), and reduced left ventricular ejection fraction (EF) (OR = 0.89, p < 0.001) and right ventricular EF (OR = 0.93, p < 0.001).

CONCLUSIONS

HF in ACM reflects a more severe phenotype with biventricular dysfunction and high arrhythmic burden. Genetic (DSP), electrocardiographic, and imaging markers may contribute to early identification of patients at higher risk and support earlier intervention strategies.