DILATED CARDIOMYOPATHY AGAINST THE BACKGROUND OF CENTRONUCLEAR MYOPATHY TYPE 5 IN AN 8-YEAR-OLD CHILD: A CLINICAL CASE

Abstract

Dilated cardiomyopathy (DCM) represents a rare diagnosis in pediatric practice. We described the case of DCM, developed against the background of centronuclear myopathy type 5 (CNM5) in a girl 8 years old. Manifestation of the disease with neurological symptoms and presence of previously undescribed SPEG mutation has hampered and delayed timely diagnosis and treatment of the disease. Attempts of conservative and operative correction of the decompensated heart failure (HF) in this case were unsuccessful.