Abstract
Mitochondrial cardiomyopathy can be described as a condition characterized by abnormal heart-muscle structure and/or function, secondary to mutations in nuclear or mitochondrial DNA. Its severity can range from subclinical to critical conditions. We presented three cases of mitochondrial cardiomyopathy with m.3243A > G mutation and compared the clinical manifestations with the histological findings for each of these cases. All cases showed cardiac hypertrophy, juvenile-onset diabetes mellitus, and hearing loss. Case 1 (43-year-old male) showed less cardiac involvement and shorter duration of mitochondrial disease-related symptoms than case 2 (67-year-old female) and case 3 (51-year-old male), who showed the most advanced cardiac condition and longest duration from the manifestation of heart failure. The histological findings revealed that cardiomyocytes from case 1 showed no hypertrophy and mitochondrial degeneration in electron microscopy. Alternatively, cases 2 and 3 showed hypertrophy in their cardiomyocytes, and mitochondrial degeneration (e.g. onion-like lesions, swollen cristae, and lamellar bodies) was most apparent in case 3. These results suggested that mitochondrial degeneration, as evaluated by electron microscopy, might be correlated with impaired heart function in patients with mitochondrial cardiomyopathy.
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References
El-Hattab AW, Scaglia F (2016) Mitochondrial cardiomyopathies. Front Cardiovasc Med 3:25
Meyers DE, Basha HI, Koenig MK (2013) Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. Tex Heart Inst J 40:385–394
Takemura G, Onoue K, Kashimura T, Kanamori H, Okada H, Tsujimoto A, Miyazaki N, Nakano T, Sakaguchi Y, Saito Y (2016) Electron microscopic findings are an important aid for diagnosing mitochondrial cardiomyopathy with mitochondrial DNA mutation 3243A>G. Circ Heart Fail 9:e003283
Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Kärppä M, Majamaa-Voltti KA, Rusanen H, Sorri M, Peuhkurinen KJ, Hassinen IE (1998) Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 63:447–454
Noda N, Matsumoto S, Hotta T (2019) A case of Pearson syndrome confirmed by mitochondrial genetic test. Igaku Kensa 68:596–601
Stewart JB, Chinnery PF (2015) The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease. Nat Rev Genet 16:530–542
DiMauro S, Schon EA, Carelli V, Hirano M (2013) The clinical maze of mitochondrial neurology. Nat Rev Neurol 9:429–444
Daghistani HM, Rajab BS, Kitmitto A (2019) Three-dimensional electron microscopy techniques for unravelling mitochondrial dysfunction in heart failure and identification of new pharmacological targets. Br J Pharmacol 176:4340–4359
Brown DA, Perry JB, Allen ME, Sabbah H, Stauffer BL, Shaikh SR, Cleland JGF, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ et al (2017) Mitochondrial function as a therapeutic target in heart failure. Nat Rev Cardiol 14:238–250
Tsutsui H, Kinugawa S, Matsushima S (2009) Mitochondrial oxidative stress and dysfunction in myocardial remodeling. Cardiovasc Res 81:449–456
Ikeda Y, Inomata T, Fujita T, Iida Y, Nabeta T, Naruke T, Koitabashi T, Takeuchi I, Kitamura T, Miyaji K, Ako J (2015) Morphological changes in mitochondria during mechanical unloading observed on electron microscopy: a case report of a bridge to complete recovery in a patient with idiopathic dilated cardiomyopathy. Cardiovasc Pathol 24:128–131
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The authors confirm that written consent for submission and publication of this case report including images and associated text has been obtained from the patient in line with COPE guidance. We appreciate Ms. Yukie Takahashi for technical assistance for electron microscopy.
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Saku, T., Takashio, S., Tsuruta, Y. et al. Comparison of electron microscopic findings and clinical presentation in three patients with mitochondrial cardiomyopathy caused by the mitochondrial DNA mutation m.3243A > G. Med Mol Morphol 54, 181–186 (2021). https://doi.org/10.1007/s00795-020-00268-0
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DOI: https://doi.org/10.1007/s00795-020-00268-0