RT Journal Article
SR Electronic
T1 Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 365
OP 371
DO 10.1136/jclinpath-2020-206801
VO 74
IS 6
A1 Takeda, Atsuhito
A1 Murayama, Kei
A1 Okazaki, Yasushi
A1 Imai-Okazaki, Atsuko
A1 Ohtake, Akira
A1 Takakuwa, Emi
A1 Yamazawa, Hirokuni
A1 Izumi, Gaku
A1 Abe, Jiro
A1 Nagai, Ayako
A1 Taniguchi, Kota
A1 Sasaki, Daisuke
A1 Tsujioka, Takao
A1 Basgen, John M
YR 2021
UL http://jcp.bmj.com/content/74/6/365.abstract
AB Aims Mitochondrial cardiomyopathy (MCM) is difficult to make a definite diagnosis because of various cardiovascular phenotypes and no diagnostic criteria in the pathology examination. We aim to add myocardial pathology to the diagnostic criteria for mitochondrial respiratory chain disorders.Methods Quantitative analysis of mitochondria using electron microscopy and immunohistopathological analysis with respiratory chain enzyme antibodies were performed in 11 patients with hypertrophic or restrictive cardiomyopathy who underwent endomyocardial biopsy for possible MCM . Respiratory chain enzymatic assay in biopsied myocardium and genetic studies were also performed in all the subjects to define MCM.Results Four patients were diagnosed with MCM according to the recent criteria of mitochondrial respiratory chain disorders. Using electron microscopy with quantitative analysis, the volume density of mitochondria within cardiac muscle cells was significantly increased in the MCM group compared with the non-MCM group (p=0.007). Immunohistopathological results were compatible with the result of the respiratory chain enzymatic assay.Conclusions Pathological diagnosis of MCM could be confirmed by a quantitative study of electron microscopy and immunohistopathological analysis using the mitochondrial respiratory chain enzyme subunit antibody.Data are available in a public, open access repository. The data that support the findings of this study are available from the corresponding author on reasonable request.