Identification of a novel DSP variant in a patient with sudden cardiac death through post-mortem genetic investigation

https://www.scienceopen.com/hosted-document?doi=10.15212/CVIA.2024.0043

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Both DSP cardiomyopathy and plakophilin 2 are associated with arrhythmogenic right ventricular cardiomyopathies via a desmosomal mechanism. However, the diagnostic and risk stratification criteria for plakophilin 2-associated cardiomyopathy are less accurate for DSP cardiomyopathy. In the era of genetic-based personalized medicine, gene-centric strategies are crucial for postmortem analysis and accurate risk assessment. Postmortem genetic testing is an efficient and rapid method to investigate potential disease-causing mechanisms.

WES, a powerful tool for post-mortem genetic testing, provides an effective and rapid strategy for studying potential pathogenic mechanisms. In this study, we examined a proband with sporadic cardiomyopathy and SCD. The proband had myocarditis. Combining WES with cardiomyopathy-related gene filtering identified a novel deletion variant (NM_004415.3: c.3930_3933del:p.K1310Nfs*38) in DSP.

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Chenyu Wang, Jiao Xiao and Yutong Su et al. Identification of a Novel DSP Variant in a Patient with Sudden Cardiac Death through Post-Mortem Genetic Investigation. CVIA. 2024. Vol. 9(1). DOI: 10.15212/CVIA.2024.0043