Atypical Presentations of Cardiomyopathy: Lessons from Case Reports

Dylan Barbara^*
*Correspondence: Dylan Barbara, Department of Cardiology and Internal Medicine, Medical University of Bia?ystok, M. Sk?odowskiej-Curie, Poland, Email:

Introduction

Cardiomyopathies represent a heterogeneous group of myocardial disorders characterized by structural and functional abnormalities of the heart muscle that often lead to heart failure, arrhythmias and sudden cardiac death. Traditionally, they are classified into dilated, hypertrophic, restrictive, arrhythmogenic and unclassified subtypes, each with distinct clinical features and prognostic implications. However, not all patients present with the classical manifestations of dyspnea, chest pain, palpitations, or syncope that typically guide diagnosis. Instead, cardiomyopathies may emerge with atypical or misleading symptoms such as isolated gastrointestinal complaints, neurological deficits, thromboembolic events, or subtle electrocardiographic abnormalities that can obscure the underlying cardiac pathology. These unusual presentations often delay recognition, resulting in misdiagnosis, inappropriate management, or progression to advanced disease stages. The diagnostic challenges are compounded by the genetic diversity, variable penetrance and influence of comorbid conditions that shape the expression of cardiomyopathies. For example, hypertrophic cardiomyopathy may remain clinically silent until adulthood or present initially with arrhythmias rather than left ventricular outflow obstruction. Restrictive cardiomyopathy may mimic chronic liver disease or pulmonary hypertension, while arrhythmogenic right ventricular cardiomyopathy may masquerade as idiopathic ventricular tachycardia. They provide detailed accounts of unusual phenotypes, rare complications and unique therapeutic responses that are not captured in larger trials or cohort studies. By highlighting diagnostic pitfalls and successful management strategies, case-based literature not only enriches clinical awareness but also emphasizes the need for individualized approaches in cardiomyopathy care. Ultimately, exploring atypical presentations through case reports offers valuable lessons for improving early detection, refining diagnostic pathways and optimizing patient outcomes in this complex and evolving field [1].

Description

Cardiomyopathies constitute a diverse group of myocardial disorders that disrupt the structural and functional integrity of the heart, often culminating in heart failure, arrhythmias and sudden cardiac death. They are broadly categorized into dilated, hypertrophic, restrictive, arrhythmogenic right ventricular and unclassified subtypes, each with characteristic features and clinical trajectories. However, real-world clinical encounters reveal that not all patients present with the expected constellation of symptoms such as exertional dyspnea, palpitations, or syncope. Instead, many individuals exhibit atypical or misleading signs that obscure the underlying diagnosis and complicate clinical decision-making. For example, cardiomyopathy may initially manifest as gastrointestinal complaints, peripheral edema, thromboembolic phenomena, or even neurological disturbances that mimic other systemic diseases. Hypertrophic cardiomyopathy has been reported to present with unexplained fatigue or chest pain misattributed to coronary artery disease, while restrictive cardiomyopathy may masquerade as chronic liver disease or pulmonary hypertension. Such presentations challenge traditional diagnostic frameworks and often delay recognition, leading to inappropriate treatment and disease progression. The variability in phenotype underscores the importance of maintaining a broad differential diagnosis when evaluating patients with unexplained systemic or cardiovascular symptoms. These challenges highlight the central need for heightened clinical suspicion and reliance on multimodal diagnostic approaches, including advanced imaging, genetic testing and biomarker analysis [2].

The pathophysiology underlying atypical presentations of cardiomyopathy is influenced by genetic, molecular and environmental factors that shape disease expression. Variability in gene mutations, epigenetic regulation and modifier genes contributes to heterogeneous phenotypes even within the same family. Penetrance and expression may differ across age groups, leading to silent disease in some individuals and fulminant cardiomyopathy in others. For instance, arrhythmogenic right ventricular cardiomyopathy may initially present as isolated ventricular arrhythmias rather than overt structural abnormalities, complicating early diagnosis. Similarly, infiltrative forms of cardiomyopathy such as amyloidosis or sarcoidosis may first manifest as systemic complaints neuropathy, renal dysfunction, or dermatological findings before overt cardiac involvement is recognized. Diagnostic overlap with conditions such as myocarditis, pulmonary hypertension, or ischemic cardiomyopathy further adds to the complexity. Advanced cardiac imaging techniques, including cardiac magnetic resonance imaging with late gadolinium enhancement, have become invaluable for identifying subtle myocardial fibrosis and differentiating cardiomyopathies from mimicking conditions. Genetic testing also provides critical insights, not only confirming the diagnosis but also aiding in family screening and risk stratification. Nonetheless, in atypical cases, even advanced tools may yield inconclusive results, leaving clinicians reliant on clinical judgment and accumulated case-based experiences to guide diagnosis and management [3].

Management of atypical cardiomyopathy presentations poses additional therapeutic challenges, as standard treatment guidelines are largely based on typical clinical scenarios. Patients with unusual manifestations may not respond predictably to conventional pharmacologic regimens such as beta-blockers, ACE inhibitors, or diuretics. In hypertrophic cardiomyopathy, those presenting primarily with arrhythmias may require early consideration of implantable cardioverter-defibrillators (ICDs), while patients with restrictive cardiomyopathy misdiagnosed as hepatic or pulmonary disease may not benefit until the cardiac etiology is identified. Precision medicine approaches, including genotype-directed therapy, hold significant promise but remain underutilized due to limited access and lack of robust evidence in rare clinical variants. Additionally, advanced therapies such as left ventricular assist devices (LVADs) or transplantation may be delayed in atypical cases due to diagnostic uncertainty or misclassification. Non-cardiac symptoms may also hinder adherence to therapy, as patients may not appreciate the cardiac origin of their illness. Rehabilitation and lifestyle recommendations must also be tailored, since conventional exercise prescriptions or dietary advice may be inappropriate in certain rare cardiomyopathies. Ultimately, individualized treatment strategies informed by case-based evidence are essential to improving outcomes in this complex patient population [4].

Case reports play a pivotal role in expanding understanding of atypical cardiomyopathy presentations, offering valuable insights beyond what clinical trials and cohort studies typically capture. They provide detailed documentation of unusual phenotypes, unexpected complications and therapeutic responses that enrich clinical practice and research. For example, reports of cardiomyopathy presenting with stroke as the initial manifestation, or cases of arrhythmogenic cardiomyopathy misdiagnosed as idiopathic epilepsy due to seizure-like episodes, have broadened awareness of diagnostic pitfalls. Such case-based evidence reinforces the importance of comprehensive evaluation, multidisciplinary collaboration and incorporation of novel diagnostic modalities when faced with puzzling clinical scenarios. By emphasizing variability in presentation and response, case reports highlight the need for a flexible and personalized approach to patient care. Furthermore, they contribute to the development of new hypotheses regarding disease mechanisms and treatment strategies, laying the groundwork for future clinical research. As precision medicine and genetic therapies advance, lessons from case reports will remain indispensable in guiding early recognition, tailoring therapy and ultimately improving survival and quality of life in patients with cardiomyopathy [5].

Conclusion

Atypical presentations of cardiomyopathy pose significant diagnostic and therapeutic challenges, often leading to delayed recognition, misdiagnosis, and suboptimal management. Their diverse clinical expressions, shaped by genetic, molecular, and systemic factors, highlight the limitations of conventional diagnostic pathways and underscore the importance of comprehensive, multidisciplinary evaluation. Case reports remain invaluable in this context, as they capture rare manifestations, unique complications, and unconventional therapeutic responses that may not be evident in larger studies. By integrating lessons from such cases into clinical practice, healthcare providers can enhance diagnostic accuracy, tailor management strategies, and improve patient outcomes. Ultimately, continued attention to atypical presentations enriches the field of cardiology and strengthens the movement toward personalized medicine in the management of cardiomyopathy.

Acknowledgement

None.

Conflict of Interest

None.

References

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