Key result
Dual rare variants in MYBPC3 and DSP highlight the genetic complexity of obstructive HCM.
Why the study?
While MYBPC3 mutations are a major contributor to HCM, the role of DSP gene variants in HCM has been less frequently documented.
The co-occurrence of a rare MYBPC3 frameshift variant and a novel DSP missense variant may act synergistically to produce a severe obstructive hypertrophic cardiomyopathy phenotype with a high risk for sudden cardiac death.
Dual MYBPC3/DSP variants may underlie severe obstructive HCM with SCD risk; leaves open DSP's role in HCM pathogenesis.
Hypertrophic cardiomyopathy (HCM) represents the most prevalent form of hereditary cardiomyopathy, and mutation in the cardiac myosin-binding protein C (MYBPC3) gene have been identified as a major contributor to the pathogenesis of HCM. While the desmoplakin (DSP) gene is primarily associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM), its role in HCM has been less frequently documented. This case report describes a Chinese patient with obstructive HCM harboring rare variants in both the MYBPC3 and DSP genes. These findings provide valuable insights for future investigations into the genetic underpinnings and disease associations.
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Wu et al. (2026) studied this question. A Chinese patient with obstructive hypertrophic cardiomyopathy was found to have rare variants in both the MYBPC3 and DSP genes, highlighting the genetic complexity of HCM.
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