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Arrhythmogenic Cardiomyopathy or "Athlete's Heart"?: A Systematic Approach to Differential Diagnosis
Tiziana Cristina Minopoli1, Kanesh Kanthagnani2, Iacopo Olivotto3
1Cardiovascular and Genomics Research Institute, City St George's, University of London, London, United Kingdom; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Insights
Distinguishing arrhythmogenic cardiomyopathy (ACM) from athletic heart adaptations is crucial. This review aids clinicians in differentiating these conditions to ensure accurate diagnosis and management for athletes.
Area of Science:
- Cardiology
- Genetics
- Sports Medicine
Background:
- Arrhythmogenic cardiomyopathy (ACM) is a heritable heart condition linked to fatal arrhythmias, particularly with intense exercise.
- Physiological cardiac adaptations in athletes can mimic ACM phenotypes, creating diagnostic challenges.
- Misdiagnosis can lead to delayed treatment for ACM or unnecessary restrictions for athletes.
Purpose of the Study:
- To provide a comprehensive analysis of the differential diagnosis between physiological cardiac adaptations and ACM.
- To highlight key features that distinguish benign athletic remodeling from early arrhythmogenic cardiomyopathy.
- To guide clinical management by identifying red flags and benign findings.
Main Methods:
- Systematic review of literature on arrhythmogenic cardiomyopathy and athletic cardiac remodeling.
- Analysis of clinical presentation, family history, and electrocardiogram findings.
- Identification of distinguishing features for differential diagnosis.
Main Results:
- Overlap exists between athletic adaptations and ACM phenotypes, complicating diagnosis.
- Thorough patient history and ECG interpretation are essential.
- Further investigations are needed when ACM is suspected.
Conclusions:
- A systematic approach is vital for accurate diagnosis in athletes.
- Differentiating ACM from athletic remodeling prevents misdiagnosis and ensures appropriate patient care.
- This review offers a framework for rational clinical management.
Abstract:
Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiac condition, which may lead to fatal arrhythmias, especially during intense exercise. Long-term regular exercise is associated with a spectrum of physiological cardiac adaptations, some of which may overlap with phenotypic features of ACM, thereby complicating the distinction between benign athletic remodeling and early disease expression. This overlap presents a significant diagnostic challenge, as misclassifying pathological changes as physiological can delay appropriate risk stratification and management. By contrast, overdiagnosis of cardiomyopathy in healthy athletes may lead to unnecessary restriction from sport and psychological distress. The complexities in the differential diagnosis may be mitigated by embracing a comprehensive and systematic approach, including a thorough assessment of family and personal history, and a careful interpretation of the electrocardiogram, with further investigations to be requested if suspicion of an underlying disease is raised. This review provides a comprehensive analysis of the differential diagnosis between physiological cardiac adaptations and pathological changes that raise the suspicion of ACM, highlighting red flags and benign findings to rationalize clinical management.
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