A frameshift variant in PKP2 can be associated with a complex phenotype in sudden cardiac death: a case report

Key Points

• The identified frameshift variant is linked to sudden cardiac death, suggesting genetic factors may play a critical role.
• A specific genetic mutation in the PKP2 gene was observed in a patient with a complex phenotype.
• This case report highlights the importance of genetic screening in individuals with unexplained sudden cardiac events.
• Further investigation is needed to understand the full implications of this genetic variant on cardiac health.