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.
Abstract

Related Concept Videos

Mechanism of Cardiac Arrhythmias01:28

Mechanism of Cardiac Arrhythmias

Arrhythmias are irregular heart rhythms occurring when the heart's electrical impulses become abnormal. These disturbances can lead to various symptoms, depending on their severity and the underlying cause. Some common factors contributing to arrhythmias include hypoxia, ischemia, electrolyte imbalances, excessive catecholamine exposure, drug toxicity, and muscle overstretching. Arrhythmias can be classified into two main types based on the rate and site of origin of abnormal heart rhythms.
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Dysrhythmias V: Evaluating Dysrhythmias01:30

Dysrhythmias V: Evaluating Dysrhythmias

Dysrhythmias, also known as arrhythmias, are disturbances in the heart's rhythm that range from benign to life-threatening. A thorough evaluation is crucial for appropriate management and involves a comprehensive medical history, physical examination, and various diagnostic tests.Medical HistorySymptoms: Collect detailed information on palpitations, dizziness, syncope, chest pain, and fatigue. Note their onset, frequency, and triggers.Previous Cardiac Issues: Document any history of heart...
Disturbances in Heart Rhythm01:29

Disturbances in Heart Rhythm

Arrhythmia or dysrhythmia refers to an abnormal heart rhythm caused by a defect in the heart's conduction system. It can cause the heart to beat irregularly, too quickly, or too slowly, leading to symptoms like chest pain, shortness of breath, and fainting. Factors such as stress, caffeine, alcohol, nicotine, cocaine, certain drugs, congenital defects, diseases, and electrolyte abnormalities can trigger arrhythmias.
Arrhythmias are categorized by their speed, rhythm, and origin. A slow heart...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...