Tag: Novel DSP Variant

Identification of a Novel DSP Variant in a Patient with Sudden Cardiac Death through Post-Mortem Genetic Investigation

Identification of a Novel DSP VariantAnnouncing 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.

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