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Cardiomyocyte inclusion bodies

MedGen UID:
1613792
•Concept ID:
C4531189
•
Finding
HPO: HP:0031334

Definition

Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCardiomyocyte inclusion bodies

Recent clinical studies

Etiology

Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene.
Du H, Chen Y, Zeng L, Wu R, Wu T, Zhu J
Int J Rheum Dis 2024 Feb;27(2):e15036. doi: 10.1111/1756-185X.15036. PMID: 38333999
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
Bengoechea R, Pittman SK, Tuck EP, True HL, Weihl CC
Hum Mol Genet 2015 Dec 1;24(23):6588-602. Epub 2015 Sep 11 doi: 10.1093/hmg/ddv363. PMID: 26362252Free PMC Article
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
Selcen D, Bromberg MB, Chin SS, Engel AG
Neurology 2011 Nov 29;77(22):1951-9. Epub 2011 Nov 16 doi: 10.1212/WNL.0b013e31823a0ebe. PMID: 22094483Free PMC Article
Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.
Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O'Callaghan MW
Circulation 2009 May 19;119(19):2561-7. Epub 2009 May 4 doi: 10.1161/CIRCULATIONAHA.108.841494. PMID: 19414635
A case of type 1 muscle fibre hypotrophy and internal nuclei.
Inokuchi T, Umezaki H, Santa T
J Neurol Neurosurg Psychiatry 1975 May;38(5):475-82. doi: 10.1136/jnnp.38.5.475. PMID: 168319Free PMC Article

Diagnosis

Histopathological changes of myocytes in restrictive cardiomyopathy.
Kawano H, Kawamura K, Kanda M, Ishijima M, Abe K, Hayashi T, Matsumoto Y, Kimura A, Maemura K
Med Mol Morphol 2021 Sep;54(3):289-295. Epub 2021 May 31 doi: 10.1007/s00795-021-00293-7. PMID: 34057638
Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.
Hsu MJ, Chang FP, Lu YH, Hung SC, Wang YC, Yang AH, Lee HJ, Sung SH, Wang YF, Yu WC, Hsu TR, Huang PH, Chang SK, Dzhagalov I, Hsu CL, Niu DM
Genet Med 2019 Jan;21(1):224-232. Epub 2018 Jun 6 doi: 10.1038/s41436-018-0010-z. PMID: 29875425
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
Selcen D, Bromberg MB, Chin SS, Engel AG
Neurology 2011 Nov 29;77(22):1951-9. Epub 2011 Nov 16 doi: 10.1212/WNL.0b013e31823a0ebe. PMID: 22094483Free PMC Article
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
Wang RY, Abe JT, Cohen AH, Wilcox WR
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S369-74. Epub 2008 Oct 21 doi: 10.1007/s10545-008-0930-x. PMID: 18937048
Histopathology of early myocardial infarcts. A new approach.
Bouchardy B, Majno G
Am J Pathol 1974 Feb;74(2):301-30. PMID: 4359735Free PMC Article

Therapy

Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.
Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O'Callaghan MW
Circulation 2009 May 19;119(19):2561-7. Epub 2009 May 4 doi: 10.1161/CIRCULATIONAHA.108.841494. PMID: 19414635
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
Wang RY, Abe JT, Cohen AH, Wilcox WR
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S369-74. Epub 2008 Oct 21 doi: 10.1007/s10545-008-0930-x. PMID: 18937048
Mitochondrial intermembrane inclusion bodies: the common denominator between human mitochondrial myopathies and creatine depletion, due to impairment of cellular energetics.
O'Gorman E, Piendl T, Müller M, Brdiczka D, Wallimann T
Mol Cell Biochem 1997 Sep;174(1-2):283-9. PMID: 9309701
Morphology of mesenchymal elements of normal artery, fatty streaks, and plaques.
Geer JC, Webster WS
Adv Exp Med Biol 1974;43(0):9-33. doi: 10.1007/978-1-4684-3243-5_2. PMID: 4365789
Polymyositis with intranuclear inclusions. A light and electron microscopic study.
Schochet SS Jr, McCormick WF
Arch Neurol 1973 Apr;28(4):280-3. doi: 10.1001/archneur.1973.00490220088017. PMID: 4347327

Prognosis

Chronic myocarditis with a long clinical course: Report of an autopsy case of probable autoimmune myocarditis.
Shintaku M, Uchiyama K, Kobayashi Y
Pathol Int 2017 Oct;67(10):521-525. Epub 2017 Sep 6 doi: 10.1111/pin.12568. PMID: 28875521
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity.
Jain P, Rajeshwari SM, Singh J, Kumar T, Agarwal SP, Das P
Fetal Pediatr Pathol 2016;35(2):124-8. Epub 2016 Jan 30 doi: 10.3109/15513815.2015.1131783. PMID: 26828629
I-Z-I complexes in congenital myopathy.
Rhodes RH, Sharer LR
Muscle Nerve 2010 May;41(5):715-23. doi: 10.1002/mus.21575. PMID: 20229580
Sisters with atypical Fabry's disease with complete atrioventricular block.
Doi Y, Toda G, Yano K
Heart 2003 Jan;89(1):e2. doi: 10.1136/heart.89.1.e2. PMID: 12482812Free PMC Article
Slowly progressive congenital myopathy with cytoplasmic bodies--report of two cases and a review of the literature.
Wolburg H, Schlote W, Langohr HD, Peiffer J, Reiher KH, Heckl RW
Clin Neuropathol 1982;1(2):55-66. PMID: 6301720

Clinical prediction guides

Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness.
Wang Y, Melkani GC, Suggs JA, Melkani A, Kronert WA, Cammarato A, Bernstein SI
Mol Biol Cell 2012 Jun;23(11):2057-65. Epub 2012 Apr 11 doi: 10.1091/mbc.E12-02-0120. PMID: 22496423Free PMC Article
Desmin-related cardiomyopathy: an unfolding story.
McLendon PM, Robbins J
Am J Physiol Heart Circ Physiol 2011 Oct;301(4):H1220-8. Epub 2011 Jul 22 doi: 10.1152/ajpheart.00601.2011. PMID: 21784990Free PMC Article
Mitochondrial intermembrane inclusion bodies: the common denominator between human mitochondrial myopathies and creatine depletion, due to impairment of cellular energetics.
O'Gorman E, Piendl T, Müller M, Brdiczka D, Wallimann T
Mol Cell Biochem 1997 Sep;174(1-2):283-9. PMID: 9309701
Structural features of extraocular muscles of children with strabismus.
Martinez AJ, Biglan AW, Hiles DA
Arch Ophthalmol 1980 Mar;98(3):533-9. doi: 10.1001/archopht.1980.01020030529020. PMID: 6244809
Synthesis of type I collagen by human smooth muscle cells in vitro.
Layman DL, Titus JL
Lab Invest 1975 Aug;33(2):103-7. PMID: 169435

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