# A case report of a Chinese patient with obstructive hypertrophic cardiomyopathy harboring rare variants in both the MYBPC3 and DSP genes

## TL;DR

A Chinese patient with heart disease had rare genetic changes in two genes linked to heart conditions, offering new clues about the disease's genetic causes.

## Contribution

The report highlights a rare case of HCM with co-occurring MYBPC3 and DSP gene variants in a Chinese patient.

## Key findings

- The patient had obstructive HCM with rare variants in both MYBPC3 and DSP genes.
- This case suggests a potential genetic link between HCM and DSP-related cardiomyopathies.
- The findings may aid in understanding the genetic basis of HCM in diverse populations.

## Abstract

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.