Skip to main content

Advertisement

SpringerLink
Log in

Histopathological changes of myocytes in restrictive cardiomyopathy

  • Case Report
  • Published:
Medical Molecular Morphology Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7

Similar content being viewed by others

Abbreviations

RCM:

Restrictive cardiomyopathy

HCM:

Hypertrophic cardiomyopathy

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

    Article  Google Scholar 

  2. Muchtar E, Blauwet LA, Gertz MA (2017) Restrictive cardiomyopathy: Genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res 121:819–837

    Article  CAS  Google Scholar 

  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

    Article  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    Article  CAS  Google Scholar 

  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

    CAS  PubMed  PubMed Central  Google Scholar 

  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

    Article  Google Scholar 

Download references

Acknowledgements

None.

Funding

This work was supported by the Japan Society for the Promotion of Science, Grant-in-Aid for Scientific Research, Grant Number 17K09512.

Author information

Authors and Affiliations

  1. Department of Cardiovascular Medicine, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan

    Hiroaki Kawano, Mitsuaki Ishijima & Koji Maemura

  2. Faculty of Science and Engineering, Waseda University, Tokyo, Japan

    Koichi Kawamura

  3. Department of Cardiology, Juzenkai Hospital, Nagasaki, Japan

    Munetake Kanda

  4. Department of Pathology, Japanese Red Cross Nagasaki Genbaku Hospital, Nagasaki, Japan

    Kuniko Abe

  5. Department of Pathology, Shimabara Prefectural Hospital, Shimabara, Japan

    Tomayoshi Hayashi

  6. Department of Cardiology, Japanese Red Cross Nagasaki Genbaku Hospital, Nagasaki, Japan

    Yuji Matsumoto

  7. Department of Molecular Pathogenesis, Medical Research Institute Tokyo Medical and Dental University, Tokyo, Japan

    Akinori Kimura

Authors
  1. Hiroaki Kawano
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Koichi Kawamura
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Munetake Kanda
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Mitsuaki Ishijima
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Kuniko Abe
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Tomayoshi Hayashi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Yuji Matsumoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Akinori Kimura
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Koji Maemura
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Hiroaki Kawano.

Ethics declarations

Conflict of interest

None declared.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kawano, H., Kawamura, K., Kanda, M. et al. Histopathological changes of myocytes in restrictive cardiomyopathy. Med Mol Morphol 54, 289–295 (2021). https://doi.org/10.1007/s00795-021-00293-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00795-021-00293-7

Keywords

Search

Navigation