Arrhythmogenic Cardiomyopathy and Biomarkers: A Promising Perspective?
Federico Barocelli1, Nicolò Pasini1, Alberto Bettella1
1Cardiology Division, Parma University Hospital, 43126 Parma, Italy.
Journal of Clinical Medicine
|October 16, 2025
Summary
Biomarkers show promise for diagnosing arrhythmogenic cardiomyopathy (ACM), a heart muscle disease. Integrating these markers with imaging and genetics may improve early detection and personalized treatment.
Area of Science:
- Cardiology
- Genetics
- Biomarker Discovery
Background:
- Arrhythmogenic cardiomyopathy (ACM) is a genetic heart muscle disease causing myocardial fibrosis, arrhythmias, and sudden cardiac death.
- Early ACM diagnosis is difficult due to incomplete penetrance and variable expressivity, with fatal events often occurring early.
- Reliable biomarkers are needed to improve diagnostic accuracy, risk stratification, and clinical management of ACM.
Purpose of the Study:
- To review current and emerging biomarkers for arrhythmogenic cardiomyopathy (ACM).
- To assess the potential role of biomarkers in enhancing ACM diagnosis and management.
- To explore the integration of biomarkers with other diagnostic modalities.
Main Methods:
- Narrative review of scientific literature on ACM biomarkers.
- Examination of various biomarker categories: troponins, natriuretic peptides, inflammatory proteins, microRNAs, fibrosis markers.
- Discussion of genetic testing and cardiac imaging in ACM diagnosis.
Main Results:
- Several biomarkers are associated with ACM severity, arrhythmic burden, and disease progression.
- Current biomarkers have limited routine clinical utility as standalone diagnostic tools.
- Multimodal diagnostic strategies combining biomarkers, imaging, and genetics show promise.
Conclusions:
- No single biomarker is sufficient for standalone ACM diagnosis.
- Ongoing research in multi-marker panels and novel targets offers future potential.
- Integrating circulating biomarkers with imaging, genetic, and clinical data may improve early ACM detection and personalized therapy.
Related Concept Videos
01:20Blood Studies for Cardiovascular System I: Cardiac Biomarkers
786
Cardiac biomarkers are enzymes, proteins, and hormones released into the blood when cardiac cells are injured. They are powerful tools for triaging.
The essential diagnostic tools for detecting myocardial necrosis and monitoring individuals suspected of having acute coronary syndrome (ACS) include:
Troponins
Troponins, particularly cardiac troponins I and T, are the most precise and sensitive markers of myocardial injury. They are detectable within 4-6 hours of myocardial injury and remain...
The essential diagnostic tools for detecting myocardial necrosis and monitoring individuals suspected of having acute coronary syndrome (ACS) include:
Troponins
Troponins, particularly cardiac troponins I and T, are the most precise and sensitive markers of myocardial injury. They are detectable within 4-6 hours of myocardial injury and remain...
786
01:25Cardiomyopathy I: Introduction and Classification
498
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...
498
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
449
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
449
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
399
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...
399
01:30Dysrhythmias V: Evaluating Dysrhythmias
324
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...
324
01:30Cardiomyopathy II: Dilated Cardiomyopathy
464
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,...
464