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Published on: December 11, 2017
Beyond arrhythmias: Exploring heart failure in arrhythmogenic cardiomyopathy
Marika Martini1, Marta Masini2, Ilaria Rigato1
1Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, Padova, Italy.
Insights
Heart failure (HF) in arrhythmogenic cardiomyopathy (ACM) indicates a severe condition with biventricular dysfunction. Identifying genetic (DSP), ECG, and imaging markers aids early risk identification for patients with ACM.
Area of Science:
- Cardiology
- Genetics
- Heart Disease
Background:
- Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition causing dangerous ventricular arrhythmias.
- Increased survival in ACM patients due to improved therapies highlights heart failure (HF) as a growing clinical concern.
Purpose of the Study:
- To characterize heart failure (HF) in patients with arrhythmogenic cardiomyopathy (ACM).
- To identify clinical, electrocardiographic, imaging, and genetic variables associated with HF occurrence in ACM patients.
Main Methods:
- Retrospective single-center study of 657 ACM patients diagnosed via 2010 Task Force and Padua criteria.
- HF defined as hospitalization for HF symptoms; comparison of clinical, ECG, imaging, and genetic data between HF and non-HF groups.
Main Results:
- Heart failure (HF) occurred in 7.3% of ACM patients.
- HF patients showed more ECG abnormalities (T-wave inversions, low QRS voltages), higher prevalence of Desmoplakin (DSP) and Desmin variants, increased ventricular volumes, reduced biventricular systolic function, and higher arrhythmic burden.
- Associated with HF: DSP variants (OR 3.08), low peripheral QRS voltages (OR 3.76), reduced LVEF (OR 0.89), and reduced RVEF (OR 0.93).
Conclusions:
- Heart failure (HF) in ACM signifies a severe phenotype characterized by biventricular dysfunction and significant arrhythmic burden.
- Genetic (DSP), electrocardiographic, and imaging markers can aid in early identification of high-risk ACM patients.
- Early identification supports timely intervention strategies for ACM patients at risk of HF.
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.
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