Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management

Area of Science:

• Cardiology
• Genetics
• Pathology

Background:

• Arrhythmogenic cardiomyopathy (AC), also known as arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is a hereditary heart muscle disease.
• It is characterized by ventricular arrhythmias, dysfunction of the ventricles, and fibrofatty replacement of heart muscle cells.
• Sudden cardiac death (SCD) can be the initial presentation, particularly in younger individuals during the concealed disease stage.

Purpose of the Study:

• To summarize the key aspects of arrhythmogenic cardiomyopathy (AC).
• To highlight diagnostic criteria, genetic basis, risk stratification, and therapeutic goals.
• To emphasize the importance of preventing SCD and lifestyle recommendations for patients and carriers.

Main Methods:

• Review of current diagnostic criteria established by an international Task Force.
• Analysis of genetic substrates, predominantly desmosomal genes, and non-desmosomal mutations.
• Discussion of risk stratification challenges and the role of genotype-phenotype correlations.

Main Results:

• AC diagnosis relies on established international Task Force Criteria.
• Genetic mutations, primarily in desmosomal proteins, underlie AC in most cases.
• Current risk stratification methods are imperfect, necessitating further research into genotype-phenotype correlations.

Conclusions:

• Prevention of SCD is the primary therapeutic objective in AC management.
• Treatment options include antiarrhythmic drugs, catheter ablation, and ICD implantation.
• Patients and mutation carriers must avoid competitive and endurance sports.