Targeting the Root, Not Just the Rhythm: Next-Generation Strategies for PKP2-ACM Powered by Lexeo-Targeting the Root, Not Just the Rhythm: Next-Generation Strategies for PKP2-ACM Powered by Lexeo

Targeting the Root, Not Just the Rhythm: Next-Generation Strategies for PKP2-ACM Powered by Lexeo

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Video Summary

In this expert panel discussion led by cardiologist Andrew Cron, specialists in arrhythmogenic right ventricular cardiomyopathy (ARVC) and arrhythmogenic cardiomyopathy (ACM) share insights on diagnosis, genetic testing, patient care, and future therapies. The panelists emphasize the complexity of diagnosing ARVC, noting frequent misdiagnosis due to variable presentations, and highlight the importance of thorough imaging review, including MRI raw data analysis, and electrocardiographic evaluation. Genetic counseling and testing are discussed as critical but sometimes challenging components, especially regarding family cascade screening and sharing results amid privacy concerns. Access to genetic testing varies, with the U.S. system more fragmented than Canada’s universal care, and many patients unexpectedly discover pathogenic variants through secondary findings. Treatment strategies for arrhythmias often involve beta blockers and flecainide, though evidence for long-term effectiveness is limited and patient tolerance varies. Experts note that beta blockers are commonly used despite uncertain benefit and emphasize individualized approaches based on age, symptoms, and risk. A growing interest exists in precision medicine, with gene therapies and induced pluripotent stem cell research offering hope for targeted treatments, though these remain mostly experimental. Patients increasingly inquire about these advances via social media and support groups. The panel underscores multidisciplinary care, ongoing research, and collaborative data sharing as keys to improving outcomes and anticipates transformative developments in ARVC management within 5–10 years.

Keywords

arrhythmogenic right ventricular cardiomyopathy

arrhythmogenic cardiomyopathy

diagnosis challenges

genetic testing

imaging review

beta blockers

precision medicine

multidisciplinary care