Key result
An MYH7 gene mutation resulted in restrictive cardiomyopathy in a female patient and a hypertrophic phenotype in her daughter, demonstrating variable clinical presentation of the variant.
Case Report (n=2)
MYH7 mutations can induce restrictive cardiomyopathy with variable phenotypic expression within the same family.
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.
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A 2025 study conducted a case report in MYH7-induced restrictive cardiomyopathy (n=2). MYH7 mutation was evaluated on Clinical presentation and phenotype. An MYH7 gene mutation resulted in restrictive cardiomyopathy in a female patient and a hypertrophic phenotype in her daughter, demonstrating variable clinical presentation of the variant.
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