Arrhythmogenic right ventricular cardiomyopathy : Evolving from unique clinical features to a complex...

Area of Science:

• Cardiology
• Genetics
• Pathology

Background:

• Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease characterized by fibro-fatty replacement of the myocardium.
• Pathological alterations in ARVC can lead to life-threatening ventricular tachyarrhythmias, heart failure, and sudden cardiac death, particularly in young individuals.
• The clinical presentation of ARVC is variable, with complex diagnostic algorithms and evolving treatment strategies.

Purpose of the Study:

• To provide an update on the clinical diagnosis and differential diagnoses of ARVC.
• To review the current understanding of ARVC pathogenesis.
• To highlight new efforts in risk stratification for ARVC patients.

Main Methods:

• Review of existing literature on ARVC diagnosis, genetics, and pathogenesis.
• Analysis of diagnostic criteria evolution, including qualitative and quantitative scoring systems.
• Discussion of genetic mutations, phenocopies, and broader concepts like arrhythmogenic cardiomyopathy (AC).

Main Results:

• Molecular genetic analyses reveal mutations in desmosomal genes, though their diagnostic and prognostic impact is still under investigation.
• Identification of non-desmosomal genetic and non-genetic causes (phenocopies) contributing to ARVC.
• Revision of diagnostic criteria over time, reflecting a deeper understanding of the disease spectrum, including biventricular and left dominant forms.

Conclusions:

• ARVC diagnosis remains complex, necessitating a comprehensive approach considering genetic, clinical, and imaging data.
• Understanding the genetic underpinnings and diverse etiologies is crucial for accurate diagnosis and risk stratification.
• Ongoing research into pathogenesis and risk stratification aims to refine individualized treatment strategies for ARVC.