Myosin heavy chain 7 (MYH7)-related myopathies have variable clinical features and onsets and are emerging as a group of muscle diseases that affect a wide range of age groups. While individuals with (MYH7)-related myopathies will present with cardiac or skeletal involvement, it is less common to see cardiac and skeletal involvement occurring in a single individual. 

MYH7 gene-related myopathies have notable clinical variability that can lead to the missed or late diagnosis of this progressive myopathy. While our case highlights the pertinent family history and co-existing cardiac involvement that is strongly associated with MYH7 related myopathy, it also illustrates further cases of MYH7 mutations causing both cardiac and skeletal muscle disease.