Diagnosis Methods of Metabolic Myopathies: Cardiac Evaluation (Electrocardiogram, Echocardiogram)

cocukmetabolizma-5-1-2024

Fatma HAYVACI CANBEYLİa

aGazi University Faculty of Medicine, Department of Pediatric Cardiology, Ankara, Türkiye

ABSTRACT
Metabolic myopathies are rare genetic diseases that occur due to disorders of enzymatic pathways involved in muscle cell metabolism. They can be classified into three major groups: disorders of glycogen metabolism, disorders of lipid metabolism, and disorders of the mitochondrial respiratory chain. While it may have severe symptoms in early childhood, there are also late-onset adult types in which symptoms are mild. Cardiac involvement may be dominant in the phenotype or may be detected during routine screening. Cardiac involvement of metabolic myopathies is divided into two main groups: cardiomyopathies and arrhythmias. Some cardiac pathologies are decisive in the mortality and morbidity of the disease, so early diagnosis and treatment is important.
Keywords: Metabolic myopathies; cardiyomyopathy; cardiac evaluation; arrhythmia

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