Histopathological changes of myocytes in restrictive cardiomyopathy.
Biopsy
Myocardial necrosis
Pathology
Journal
Medical molecular morphology
ISSN: 1860-1499
Titre abrégé: Med Mol Morphol
Pays: Japan
ID NLM: 101239023
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
24
04
2021
accepted:
27
05
2021
pubmed:
1
6
2021
medline:
13
1
2022
entrez:
31
5
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34057638
doi: 10.1007/s00795-021-00293-7
pii: 10.1007/s00795-021-00293-7
doi:
Substances chimiques
MYH7 protein, human
0
Cardiac Myosins
EC 3.6.1.-
Myosin Heavy Chains
EC 3.6.4.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
289-295Informations de copyright
© 2021. The Japanese Society for Clinical Molecular Morphology.
Références
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
doi: 10.1093/eurheartj/ehm342
Muchtar E, Blauwet LA, Gertz MA (2017) Restrictive cardiomyopathy: Genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res 121:819–837
doi: 10.1161/CIRCRESAHA.117.310982
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
doi: 10.1016/j.ijcard.2013.11.037
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
doi: 10.1074/jbc.M111.234336
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
doi: 10.1016/j.nmd.2015.01.009
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
doi: 10.1136/hrt.2007.134684
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
doi: 10.1093/eurheartj/ehu435
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
doi: 10.1016/j.jacc.2016.04.024
pubmed: 27339502
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
doi: 10.1002/humu.22942
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
doi: 10.1093/hmg/dds022
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
doi: 10.1253/circj.CJ-11-0876
Toussaint M, Planche C, Villain E, Kachaner J (1987) Restrictive cardiomyopathy in children. Ultrastructural findings. Virchows Arch A Pathol Anat Histopathol 412:27–29
doi: 10.1007/BF00750727
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
doi: 10.1016/S0735-1097(98)00026-6
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
doi: 10.1034/j.1399-0004.2001.590406.x
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
doi: 10.1016/j.ymgme.2018.01.001
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
doi: 10.1111/j.1399-0004.2007.00939.x
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: 164122
pmcid: 1912557
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
doi: 10.1111/j.1747-0803.2008.00165.x