Author/Editor     Meznarič-Petruša, Mija; Župančič, Neža; Krevs, Nedeljko
Title     The role of skeletal muscle biopsy in the diagnosis of cardiomyopathy
Type     članek
Source     In: Pajer Z, Štiblar-Martinčič D, editors. International symposium on cardiovascular diseases. Proceedings of the 29th memorial meeting devoted to prof. dr. Janez Plečnik; 1998 Dec 3-5; Ljubljana. Ljubljana: Medical faculty, Institute of histology and embryology,
Publication year     1998
Volume     str. 251-6
Language     eng
Abstract     Cardiac involvement may be associated with severe skeletal muscle involvelment or with mild muscle weakness and can dominate the clinical picture. The authors are illustrating the importance of skeletal muscle biopsy in the etiological diagnosis of cardiomyopathy with the description of the 17-year old male patient with hypertrophic cardiomyopathy and slight proximal skeletal muscle weakness. The disease in the patient presented at the age of two years as fatigue at climbing the stairs. Physical examination of the heart, electrocardiogram and heart ultrasound were normal on ultrasouns examination of the heart with the following abnormalities at the age of 17-years: The end-diastolic thickness of the posterior wall of the left ventricle was 12 mm and the end-systolic thickness was 21 mm. The end-diastolic diameter of the interventricular septum was 18 mm and the end-systolic diameter was 21 mm. The end-diastolic diameter of the left ventricular chamber was 43 mm and theend-systolic diameter was 23 mm. Lactate/piruvate ratio was 29. Electromyography was normal. Light microscopic observation of the biopsy of the vastus lateralis muscle revealed 60% of fibres being ragged-red and paracrystalline inclusions in the mitochondria ulstrastructury. It was concluded that systemic mitochondrial abnormality existed in their patient, affecting predominantly the heart muscle. However, slight affected skeletal muscles enabled the diagnosis of mitochondrial cytopathy from the biopsy of the vastus lateralis muscle. Skeletal muscle biopsy, being less aggressive than cardiac biopsy could be the first and possible definite site of the biopsy in celected cases of cardiomyopathies.
Descriptors     CARDIOMYOPATHY, HYPERTROPHIC
ADOLESCENCE
MUSCLE WEAKNESS
MUSCLE, SKELETAL
BIOPSY
MITOCHONDRIA, MUSCLE