Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

Area of Science:

• Cardiology
• Genetics
• Neurology

Background:

• Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic heart condition primarily affecting the right ventricle.
• Emerging evidence links ARVD to mutations found in genes responsible for primary myopathies.
• This review explores the connection between myopathy and ARVD, focusing on patient management.

Approach:

• A comprehensive literature review was conducted using targeted search terms to synthesize current knowledge.

Key Points:

• Myofibrillar myopathy, often caused by desmin mutations, is the most common myopathy associated with ARVD.
• Other implicated genes include those for lamin A/C, ZASP/cypher, transmembrane protein-43, titin, and ryanodine receptor-2.
• Diagnosis and treatment protocols for myopathy-associated ARVD are consistent with non-myopathy-associated ARVD.

Conclusions:

• Patients diagnosed with primary myopathies due to specific gene mutations (desmin, dystrophia myotonica protein kinase, lamin A/C, ZASP/cypher, transmembrane protein-43, titin, ryanodine receptor-2) should be screened for ARVD.
• Individuals with pathogenic variants in these genes necessitate annual cardiological evaluations to monitor cardiac function and detect arrhythmias.