Display options
Share it on

Med Mol Morphol. 2021 Sep;54(3):289-295. doi: 10.1007/s00795-021-00293-7. Epub 2021 May 31.

Histopathological changes of myocytes in restrictive cardiomyopathy.

Medical molecular morphology

Hiroaki Kawano, Koichi Kawamura, Munetake Kanda, Mitsuaki Ishijima, Kuniko Abe, Tomayoshi Hayashi, Yuji Matsumoto, Akinori Kimura, Koji Maemura

Affiliations

  1. Department of Cardiovascular Medicine, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan. [email protected].
  2. Faculty of Science and Engineering, Waseda University, Tokyo, Japan.
  3. Department of Cardiology, Juzenkai Hospital, Nagasaki, Japan.
  4. Department of Cardiovascular Medicine, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
  5. Department of Pathology, Japanese Red Cross Nagasaki Genbaku Hospital, Nagasaki, Japan.
  6. Department of Pathology, Shimabara Prefectural Hospital, Shimabara, Japan.
  7. Department of Cardiology, Japanese Red Cross Nagasaki Genbaku Hospital, Nagasaki, Japan.
  8. Department of Molecular Pathogenesis, Medical Research Institute Tokyo Medical and Dental University, Tokyo, Japan.

PMID: 34057638 DOI: 10.1007/s00795-021-00293-7

Abstract

Restrictive cardiomyopathy (RCM) is a rare primary myocardial disease, and its pathological features are yet to be determined. Restrictive cardiomyopathy with MHY7 mutation was diagnosed in a 65-year-old Japanese woman. Electron microscopy of a myocardial biopsy revealed electron-dense materials resulting from focal myocyte degeneration and necrosis as well as tubular structures and pseudo-inclusion bodies in some nuclei. These features may be associated with the pathogenesis of RCM.

© 2021. The Japanese Society for Clinical Molecular Morphology.

Keywords: Biopsy; Myocardial necrosis; Pathology

References

  1. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kuhl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A (2008) Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 29:270–276 - PubMed
  2. Muchtar E, Blauwet LA, Gertz MA (2017) Restrictive cardiomyopathy: Genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res 121:819–837 - PubMed
  3. Peled Y, Gramlich M, Yoskovitz G, Feinberg MS, Afek A, Polak-Charcon S, Pras E, Sela BA, Konen E, Weissbrod O, Geiger D, Gordon PM, Thierfelder L, Freimark D, Gerull B, Arad M (2014) Titin mutation in familial restrictive cardiomyopathy. Int J Cardiol 171:24–30 - PubMed
  4. Pinto JR, Yang SW, Hitz MP, Parvatiyar MS, Jones MA, Liang J, Kokta V, Talajic M, Tremblay N, Jaeggi M, Andelfinger G, Potter JD (2011) Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach. J Biol Chem 286:20901–20912 - PubMed
  5. Konersman CG, Bordini BJ, Scharer G, Lawlor MW, Zangwill S, Southern JF, Amos L, Geddes GC, Kliegman R, Collins MP (2015) BAG3 myofibrillar myopathy presenting with cardiomyopathy. Neuromuscul Disord 25:418–422 - PubMed
  6. Kaski JP, Syrris P, Burch M, Tome-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM (2008) Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 94:1478–1484 - PubMed
  7. Yu BL, Xiang R, Hu D, Peng DQ (2015) A novel MYH7 mutation in a family with cardiomyopathy presenting with restrictive physiology and varying degrees of left ventricle hypertrophy. Eur Heart J 36:24 - PubMed
  8. Gallego-Delgado M, Delgado JF, Brossa-Loidi V, Palomo J, Marzoa-Rivas R, Perez-Villa F, Salazar-Mendiguchia J, Ruiz-Cano MJ, Gonzalez-Lopez E, Padron-Barthe L, Bornstein B, Alonso-Pulpon L, Garcia-Pavia P (2016). Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease J Am Coll Cardiol. https://doi.org/10.1016/j.jacc.2016.04.024 - PubMed
  9. Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, Gerull B (2016) Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat 37:269–279 - PubMed
  10. Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA (2012) Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet 21:2039–2053 - PubMed
  11. Otsuka H, Arimura T, Abe T, Kawai H, Aizawa Y, Kubo T, Kitaoka H, Nakamura H, Nakamura K, Okamoto H, Ichida F, Ayusawa M, Nunoda S, Isobe M, Matsuzaki M, Doi YL, Fukuda K, Sasaoka T, Izumi T, Ashizawa N, Kimura A (2012) Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. Circ J 76:453–461 - PubMed
  12. Toussaint M, Planche C, Villain E, Kachaner J (1987) Restrictive cardiomyopathy in children. Ultrastructural findings. Virchows Arch A Pathol Anat Histopathol 412:27–29 - PubMed
  13. Arbustini E, Morbini P, Grasso M, Fasani R, Verga L, Bellini O, Dal Bello B, Campana C, Piccolo G, Febo O, Opasich C, Gavazzi A, Ferrans VJ (1998) Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. J Am Coll Cardiol 31:645–653 - PubMed
  14. Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans VJ, Horiba K, Fricker FJ, Wallace MR (2001) Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy. Clin Genet 59:248–256 - PubMed
  15. Schanzer A, Rupp S, Graf S, Zengeler D, Jux C, Akinturk H, Gulatz L, Mazhari N, Acker T, Van Coster R, Garvalov BK, Hahn A (2018) Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3. Mol Genet Metab 123:388–399 - PubMed
  16. Ware SM, Quinn ME, Ballard ET, Miller E, Uzark K, Spicer RL (2008) Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet 73:165–170 - PubMed
  17. Ferrans VJ, Jones M, Maron BJ, Roberts WC (1975) The nuclear membranes in hypertrophied human cardiac muscle cells. Am J Pathol 78:427–460 - PubMed
  18. Karam S, Raboisson MJ, Ducreux C, Chalabreysse L, Millat G, Bozio A, Bouvagnet P (2008) A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. Congenit Heart Dis 3:138–143 - PubMed

Publication Types