Interv Akut Kardiol. 2018;17(1):14-18 | DOI: 10.36290/kar.2018.005

Myopathy with cardiomyopathy: a case study

Jana Junkerová¹, Iva Procházková², Lenka Fajkusová³

¹ Neurologická klinika Fakultní nemocnice Ostrava

² Kardiochirurgické centrum Fakultní nemocnice Ostrava

³ Oddělení lékařské genetiky Fakultní nemocnice Brno

Dilated and hypertrophic cardiomyopathies, arrhythmias, and/or a combination of these conditions, may be associated withfamilial and/or acquired skeletal muscle diseases. Widely available serum creatine kinase assays can readily indicate the presenceof skeletal muscle damage. Patients with diagnosed cardiomyopathy and suspected skeletal myopathy should be evaluatedby a neurologist capable to of detecting inherited or acquired comorbidities of skeletal and cardiac muscle damage by usingspecialized serum laboratory tests, electromyography, skeletal muscle biopsy, and genetic testing. This strategy will aid inestablishing a comprehensive treatment regimen, and contribute to defining the risk of life-threatening cardiomyopathy andheart failure in the offspring. We present a study of eight patients with skeletal myopathy accompanied by cardiomyopathy.The aim of this report is to draw attention to the multidisciplinary implications of skeletal myopathy and cardiomyopathy aswell as to alert cardiologists, neurologists, and other health care professional to the potential for comorbidity of skeletal andcardiac muscle disease.

Keywords: myopathy, cardiomyopathy, gene, electromyography, serum creatine kinase

Received: December 14, 2017; Accepted: February 16, 2018; Published: April 1, 2018  Show citation