Fenotypic expressions and clinical manifestations of arrhythmogenic cardiomyopathy

Area of Science:

• Cardiology
• Genetics
• Medical Diagnostics

Background:

• Arrhythmogenic cardiomyopathy (ACM) involves myocardial structural changes, leading to ventricular arrhythmias and sudden cardiac death.
• Initially focused on the right ventricle, ACM now includes left ventricular involvement (LV non-dilated cardiomyopathy phenotypes).
• ACM presents heterogeneously, with symptoms ranging from arrhythmias and heart failure to myocarditis-like episodes and extracardiac manifestations.

Purpose of the Study:

• To highlight the importance of a comprehensive diagnostic approach for Arrhythmogenic Cardiomyopathy (ACM).
• To emphasize the integration of imaging and genetic analysis for arrhythmic risk stratification.
• To underscore the role of genotype-phenotype correlations and predictive scores in personalized ACM management.

Main Methods:

• Utilizing imaging modalities like echocardiogram and cardiac magnetic resonance imaging to identify fibro-fatty replacement or non-ischemic scarring.
• Integrating genetic analysis to detect causative mutations.
• Applying the 2023 European Society of Cardiology guidelines for Cardiomyopathies.

Main Results:

• Diagnosis of ACM relies on a combination of imaging findings and genetic analysis.
• The 2023 ESC guidelines emphasize a holistic approach for diagnosis and management.
• Growing evidence supports genotype-phenotype correlations and predictive scores for improved clinical outcomes.

Conclusions:

• A comprehensive diagnostic strategy integrating imaging and genetics is crucial for effective ACM management.
• Personalized treatment plans, informed by genotype-phenotype correlations and predictive scores, are essential for improving patient care.
• Advances in understanding ACM heterogeneity and risk stratification are enhancing clinical management and patient outcomes.