A case report of MYH7 mutation-induced restrictive cardiomyopathy.

ABSTRACT:

Background

Restrictive cardiomyopathy (RCM) is characterized by impaired diastolic function and ventricular filling, often due to genetic and environmental factors. The MYH7 gene, encoding myosin heavy chain in muscle fibres critical for muscle contraction, has been implicated in RCM.

Case summary

We describe the case of a female patient who was presented with recurrent chest tightness and shortness of breath. Based on imagining findings and genetic testing, she was diagnosed with MYH7-induced RCM. Her daughter inherited the same variant but presented with a hypertrophic phenotype.

Conclusion

MYH7-induced cardiomyopathy is a complex condition, associated with variable clinical presentation and phenotype. While imagining and endomyocardial biopsy play important roles in diagnosing RCM, their application might be limited for economic and safety reasons. Further research is needed to elucidate the pathogenesis and develop safer and cheaper approaches to diagnose MYH7-induced restrictive cardiomyopathy.

SUBMITTER: Zhang S 

PROVIDER: S-EPMC12023744 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature