A case for genetic testing: Arrhythmogenic cardiomyopathy presenting as myocarditis

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.