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A case for genetic testing: Arrhythmogenic cardiomyopathy presenting as myocarditis
Rachelle E Srinivas1, Lydia K Wright2, Deipanjan Nandi2
1Ohio University Heritage College of Osteopathic Medicine, Dublin, OH, USA.
Insights
Arrhythmogenic cardiomyopathy (ACM) can present atypically in young adults, mimicking myocarditis. Early genetic testing is crucial for diagnosing ACM and preventing sudden cardiac death in at-risk individuals.
Area of Science:
- Cardiology
- Genetics
- Inherited Cardiovascular Diseases
Background:
- Arrhythmogenic cardiomyopathy (ACM) is an inherited condition characterized by fibrofatty replacement of ventricular tissue.
- ACM can lead to ventricular dysfunction, arrhythmias, and sudden cardiac death, particularly in pediatric and young adult populations.
- Clinical presentations of ACM are highly variable, posing diagnostic challenges.
Observation:
- A case study of an 18-year-old female presenting with resuscitated cardiac arrest due to ventricular arrhythmia.
- Initial cardiac magnetic resonance imaging revealed myocardial edema and delayed gadolinium enhancement, consistent with myocarditis.
- No significant ventricular changes were observed initially, complicating the diagnosis.
Findings:
- Genetic testing identified a pathogenic mutation in the desmoplakin gene, confirming a diagnosis of ACM.
- The patient's presentation mimicked myocarditis, highlighting an unconventional initial manifestation of ACM.
- This case underscores the diagnostic complexity of ACM in young individuals.
Implications:
- Early consideration of genetic testing in young patients with unexplained ventricular arrhythmias or myocarditis-like presentations is vital.
- Timely diagnosis of ACM through genetic analysis can facilitate appropriate management and risk stratification.
- Improved early detection strategies for ACM can help prevent sudden cardiac death in susceptible populations.
Abstract:
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy associated with fibrofatty tissue replacement of the ventricular tissue. The disease can cause ventricular dysfunction and arrhythmias and can increase the risk of sudden cardiac death. This cardiomyopathy can have variable clinical presentations, especially in the pediatric and young adult populations. In this report, we describe the case of an 18-year-old female with myocarditis as the initial presentation of ACM. She presented following a resuscitated cardiac arrest due to ventricular arrhythmia. On arrival, myocardial edema and delayed gadolinium enhancement were present on cardiac magnetic resonance imaging, with no ventricular changes observed, making the diagnosis consistent with myocarditis. Genetic testing revealed a pathogenic mutation in the desmoplakin gene consistent with ACM. Given the unconventional initial presentation of this patient's disease, early consideration of genetic testing may be beneficial to aid in the early diagnosis and management of ACM in young patients.
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