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A Unique Case of Biventricular Arrhythmogenic Cardiomyopathy

Aakash Rana1, Jack Xu2, Jin Zhao2

  • 1Medicine, Central Arkansas Veterans Healthcare System, Little Rock, USA.

Cureus
|May 7, 2025
PubMed

Insights

Arrhythmogenic cardiomyopathy can cause sudden cardiac death. A rare RYR2 gene mutation case presented with unusual biventricular dilation, suggesting a new disease manifestation.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is a primary genetic heart muscle disease.
  • ACM is a significant cause of sudden cardiac death (SCD) in young individuals.
  • It involves fibrofatty replacement of the myocardium, leading to ventricular dysfunction and arrhythmias.

Observation:

  • A 62-year-old male presented with symptoms of nausea, vomiting, and palpitations.
  • Diagnosis revealed heart failure secondary to biventricular arrhythmogenic cardiomyopathy.
  • Genetic testing identified a mutation in the RYR2 gene.

Findings:

  • RYR2 mutations are typically associated with right ventricular dilation in ACM.
  • This patient exhibited dilation of both the right and left ventricles.
  • This represents a potential novel phenotypic presentation of RYR2-associated ACM.

Implications:

  • The findings expand the known spectrum of RYR2-related arrhythmogenic cardiomyopathy.
  • This case highlights the importance of considering atypical presentations in genetic cardiomyopathies.
  • Further research is needed to understand the mechanisms underlying this unusual phenotype.

Keywords:
arrhythmogenic cardiomyopathyarrhythmogenic disordersarrhythmogenic right ventricular cardiomyopathyepsilon wavessudden cardiac death

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