Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 Oct 19:10:173-180.
doi: 10.4137/CMC.S38446. eCollection 2016.

Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

Josef Finsterer  1 , Claudia Stöllberger  2
Affiliations
Review

Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

Josef Finsterer et al. Clin Med Insights Cardiol. .

Abstract

Objectives: Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, genetic disorder predominantly affecting the right ventricle. There is increasing evidence that in some cases, ARVD is due to mutations in genes, which have also been implicated in primary myopathies. This review gives an overview about myopathy-associated ARVD and how these patients can be managed.

Methods: A literature review was done using appropriate search terms.

Results: The myopathy, which is most frequently associated with ARVD, is the myofibrillar myopathy due to desmin mutations. Only in a single patient, ARVD was described in myotonic dystrophy type 1. However, there are a number of genes causing either myopathy or ARVD. These genes include lamin A/C, ZASP/cypher, transmembrane protein-43, titin, and the ryanodine receptor-2 gene. Diagnosis and treatment are identical for myopathy-associated ARVD and nonmyopathy-associated ARVD.

Conclusions: Patients with primary myopathy due to mutations in the desmin, dystrophia myotonica protein kinase, lamin A/C, ZASP/cypher, transmembrane protein-43, titin, or the ryanodine receptor-2 gene should be screened for ARVD. Patients carrying a pathogenic variant in any of these genes should undergo annual cardiological investigations for cardiac function and arrhythmias.

Keywords: arrhythmias; cardiomyopathy; conduction defects; myopathy; neuromuscular; right ventricle; sudden cardiac death.

PubMed Disclaimer

Conflict of interest statement

Authors disclose no potential conflicts of interest.

References

    1. Finsterer J, Stöllberger C. Heart disease in disorders of muscle, neuromuscular transmission, and the nerves. Korean Circa J. 2016;46:117–34. - PMC - PubMed
    1. Te Riele AS, Tandri H, Sanborn DM, Bluemke DA. Noninvasive multimodality imaging in ARVD/C. JACC Cardiovasc Imaging. 2015;8:597–611. - PMC - PubMed
    1. Orgeron GM, Calkins H. Advances in the diagnosis and management of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Curr Cardiol Rep. 2016;18:53. doi: 10.1007/s11886-016-0732-y. - DOI - PubMed
    1. Cadrin-Tourigny J, Tadros R, Talajic M, Rivard L, Abadir S, Khairy P. Risk stratification for sudden death in arrhythmogenic right ventricular cardiomyopathy. Expert Rev Cardiovasc Ther. 2015;13:653–64. - PubMed
    1. Melberg A, Oldfors A, Blomström-Lundqvist C, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol. 1999;46:684–92. - PubMed

LinkOut - more resources