Arrhythmogenic right ventricular dysplasia/cardiomyopathy-three decades of progress

Area of Science:

• Cardiology
• Genetics
• Inherited cardiovascular diseases

Background:

• Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare inherited heart muscle disease.
• It is characterized by ventricular arrhythmias, sudden cardiac death, and right ventricular dysfunction.
• Desmosomal gene mutations are the most common genetic cause of ARVD/C.

Purpose of the Study:

• To provide an updated review of Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
• To highlight key advancements in diagnosis, risk stratification, and management.
• To emphasize contributions from the Johns Hopkins ARVD/C Program.

Main Methods:

• Review of current literature and diagnostic criteria.
• Analysis of genetic testing in ARVD/C diagnosis and family screening.
• Evaluation of risk assessment tools and treatment strategies.

Main Results:

• Genetic testing for desmosomal mutations is crucial for ARVD/C diagnosis and cascade screening.
• The 2010 Task Force criteria are the current diagnostic standard.
• Proband status, PVC count, and exercise are important for risk assessment and disease course.
• ICDs and VT ablation are key therapeutic interventions for at-risk patients.

Conclusions:

• Significant progress has been made in understanding ARVD/C genetics, diagnosis, and management.
• Genetic testing, updated diagnostic criteria, and risk stratification tools improve patient outcomes.
• Exercise modification and advanced therapies like ICDs and ablation are vital for managing ARVD/C.