Case Report: A novel MYBPC3 gene variant in a Chinese patient with hypertrophic cardiomyopathy and apical ventricular aneurysm, with a concurrent novel KCNJ5 gene variant - Summary - MDSpire
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Case Report: A novel MYBPC3 gene variant in a Chinese patient with hypertrophic cardiomyopathy and apical ventricular aneurysm, with a concurrent novel KCNJ5 gene variant
To report a rare case of hypertrophic cardiomyopathy (HCM) complicated by an apical ventricular aneurysm, accompanied by novel mutations in MYBPC3 and KCNJ5.
Approach:
Case Presentation: A 63-year-old woman presented with palpitations and was diagnosed with HCM and apical ventricular aneurysm. Genetic testing revealed novel variants in MYBPC3 and KCNJ5.
Key Findings:
The patient exhibited left ventricular hypertrophy and apical aneurysm, which are uncommon in HCM.
Novel mutations in MYBPC3 and KCNJ5 were identified.
Left ventricular global longitudinal strain was approximately -12.1%, indicating impaired function.
Interpretation:
The presence of both MYBPC3 and KCNJ5 variants in this patient may provide insights into the genetic factors associated with HCM.
Limitations:
The study is based on a single case, limiting generalizability.
Further research is needed to understand the implications of the identified variants.
Conclusion:
This case expands the understanding of genetic variants associated with HCM and apical ventricular aneurysm.
