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Cardiomyocyte hypertrophy

MedGen UID:
909741
Concept ID:
C4227331
Finding
Synonym: Myocyte cellular hypertrophy
 
HPO: HP:0031319

Definition

An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCardiomyocyte hypertrophy

Conditions with this feature

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
MedGen UID:
340124
Concept ID:
C1854063
Disease or Syndrome
Dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is characterized by the presence of woolly or sparse hair from birth. Some patients exhibit fragile skin with blisters/erosions after minor mechanical trauma, with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported, but patients may remain asymptomatic into the fourth decade of life. Some patients exhibit an arrhythmogenic form of cardiomyopathy, with sudden death in early adulthood (Carvajal-Huerta, 1998; Whittock et al., 2002; Alcalai et al., 2003; Uzumcu et al., 2006). Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (Naxos disease; 601214) is caused by mutation in the plakoglobin gene (JUP; 173325). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645). Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA; 615821) is caused by heterozygous mutation in DSP. An isolated form of striated PPK (PPKS2; 612908) is also caused by heterozygous mutation in DSP. Reviews In a review of cardiocutaneous syndromes and arrhythmogenic cardiomyopathy, Sen-Chowdhry and McKenna (2014) stated that although the cardiac component of Carvajal syndrome was originally considered dilated cardiomyopathy, many of its features resemble those of arrhythmogenic cardiomyopathy (see 607450). In addition, they noted that different disease subtypes have been found to coexist within the same kindred, suggesting a role for modifier genes and/or environmental influences.
Dilated cardiomyopathy 1AA
MedGen UID:
393713
Concept ID:
C2677338
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
Dilated cardiomyopathy 2A
MedGen UID:
437214
Concept ID:
C2678474
Disease or Syndrome
A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.
Hypertrophic cardiomyopathy 15
MedGen UID:
413312
Concept ID:
C2750459
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.
Dilated cardiomyopathy 1R
MedGen UID:
462031
Concept ID:
C3150681
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
Glycogen storage disease XV
MedGen UID:
462104
Concept ID:
C3150754
Disease or Syndrome
Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
Cardiomyopathy, familial hypertrophic 27
MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
MedGen UID:
1824081
Concept ID:
C5774308
Disease or Syndrome
Hypertrophic cardiomyopathy-29 (CMH29) is characterized by recurrent syncope, dyspnea on exertion, and palpitations. The clinical phenotype is associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes, and skeletal muscle accumulation of glycogen has also been observed (Hedberg-Oldfors et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600).

Professional guidelines

PubMed

Packer M
Eur J Heart Fail 2023 Dec;25(12):2130-2143. Epub 2023 Nov 14 doi: 10.1002/ejhf.3068. PMID: 37877337
Cha MJ, Kim C, Park CH, Hong YJ, Shin JM, Kim TH, Cha YJ, Park CH
Korean J Radiol 2022 Jun;23(6):581-597. Epub 2022 May 9 doi: 10.3348/kjr.2021.0815. PMID: 35555885Free PMC Article
Huynh K, Bernardo BC, McMullen JR, Ritchie RH
Pharmacol Ther 2014 Jun;142(3):375-415. Epub 2014 Jan 22 doi: 10.1016/j.pharmthera.2014.01.003. PMID: 24462787

Recent clinical studies

Etiology

Nair N
Rev Cardiovasc Med 2020 Dec 30;21(4):531-540. doi: 10.31083/j.rcm.2020.04.154. PMID: 33387998
Omura J, Habbout K, Shimauchi T, Wu WH, Breuils-Bonnet S, Tremblay E, Martineau S, Nadeau V, Gagnon K, Mazoyer F, Perron J, Potus F, Lin JH, Zafar H, Kiely DG, Lawrie A, Archer SL, Paulin R, Provencher S, Boucherat O, Bonnet S
Circulation 2020 Oct 13;142(15):1464-1484. Epub 2020 Jul 23 doi: 10.1161/CIRCULATIONAHA.120.047626. PMID: 32698630
Simmonds SJ, Cuijpers I, Heymans S, Jones EAV
Cells 2020 Jan 18;9(1) doi: 10.3390/cells9010242. PMID: 31963679Free PMC Article
Bei Y, Chen T, Banciu DD, Cretoiu D, Xiao J
Adv Exp Med Biol 2017;998:255-269. doi: 10.1007/978-981-10-4397-0_17. PMID: 28936745
Nadruz W
J Hum Hypertens 2015 Jan;29(1):1-6. Epub 2014 May 8 doi: 10.1038/jhh.2014.36. PMID: 24804791

Diagnosis

Lillo R, Graziani F, Franceschi F, Iannaccone G, Massetti M, Olivotto I, Crea F, Liuzzo G
Heart Fail Rev 2023 Sep;28(5):1065-1075. Epub 2023 Apr 28 doi: 10.1007/s10741-023-10307-4. PMID: 37115472Free PMC Article
Petramala L, Concistrè A, Olmati F, Saracino V, Chimenti C, Frustaci A, Russo MA, Letizia C
Int J Mol Sci 2020 Jul 17;21(14) doi: 10.3390/ijms21145047. PMID: 32709015Free PMC Article
Bei Y, Chen T, Banciu DD, Cretoiu D, Xiao J
Adv Exp Med Biol 2017;998:255-269. doi: 10.1007/978-981-10-4397-0_17. PMID: 28936745
Nadruz W
J Hum Hypertens 2015 Jan;29(1):1-6. Epub 2014 May 8 doi: 10.1038/jhh.2014.36. PMID: 24804791
Jerosch-Herold M, Kwong RY
Top Magn Reson Imaging 2014 Feb;23(1):3-11. doi: 10.1097/RMR.0000000000000013. PMID: 24509619Free PMC Article

Therapy

Wang M, Li J, Ding Y, Cai S, Li Z, Liu P
Eur J Pharmacol 2021 Sep 5;906:174283. Epub 2021 Jun 24 doi: 10.1016/j.ejphar.2021.174283. PMID: 34174269
Li X, Liu J, Wang J, Zhang D
Mol Med Rep 2019 Mar;19(3):1551-1560. Epub 2019 Jan 2 doi: 10.3892/mmr.2019.9803. PMID: 30628693Free PMC Article
Kato J, Kitamura K
Eur J Pharmacol 2015 Oct 5;764:140-148. Epub 2015 Jul 2 doi: 10.1016/j.ejphar.2015.06.061. PMID: 26144371
Cochain C, Channon KM, Silvestre JS
Antioxid Redox Signal 2013 Mar 20;18(9):1100-13. Epub 2012 Sep 25 doi: 10.1089/ars.2012.4849. PMID: 22870932Free PMC Article
González A, López B, Ravassa S, Beaumont J, Zudaire A, Gallego I, Brugnolaro C, Díez J
Endocrine 2012 Aug;42(1):9-17. Epub 2012 Mar 15 doi: 10.1007/s12020-012-9649-4. PMID: 22418690

Prognosis

Sukumaran V, Gurusamy N, Yalcin HC, Venkatesh S
Pflugers Arch 2022 Jan;474(1):63-81. Epub 2021 Dec 30 doi: 10.1007/s00424-021-02651-x. PMID: 34967935
Nair N
Rev Cardiovasc Med 2020 Dec 30;21(4):531-540. doi: 10.31083/j.rcm.2020.04.154. PMID: 33387998
Omura J, Habbout K, Shimauchi T, Wu WH, Breuils-Bonnet S, Tremblay E, Martineau S, Nadeau V, Gagnon K, Mazoyer F, Perron J, Potus F, Lin JH, Zafar H, Kiely DG, Lawrie A, Archer SL, Paulin R, Provencher S, Boucherat O, Bonnet S
Circulation 2020 Oct 13;142(15):1464-1484. Epub 2020 Jul 23 doi: 10.1161/CIRCULATIONAHA.120.047626. PMID: 32698630
Bei Y, Chen T, Banciu DD, Cretoiu D, Xiao J
Adv Exp Med Biol 2017;998:255-269. doi: 10.1007/978-981-10-4397-0_17. PMID: 28936745
Nadruz W
J Hum Hypertens 2015 Jan;29(1):1-6. Epub 2014 May 8 doi: 10.1038/jhh.2014.36. PMID: 24804791

Clinical prediction guides

Bei Y, Zhu Y, Wei M, Yin M, Li L, Chen C, Huang Z, Liang X, Gao J, Yao J, van der Kraak PH, Vink A, Lei Z, Dai Y, Chen H, Liang Y, Sluijter JP, Xiao J
Adv Sci (Weinh) 2023 Jun;10(18):e2300585. Epub 2023 Apr 26 doi: 10.1002/advs.202300585. PMID: 37098980Free PMC Article
Feng G, Bajpai G, Ma P, Koenig A, Bredemeyer A, Lokshina I, Lai L, Förster I, Leuschner F, Kreisel D, Lavine KJ
Circulation 2022 Mar 8;145(10):765-782. Epub 2022 Feb 3 doi: 10.1161/CIRCULATIONAHA.121.055888. PMID: 35113652Free PMC Article
Petramala L, Concistrè A, Olmati F, Saracino V, Chimenti C, Frustaci A, Russo MA, Letizia C
Int J Mol Sci 2020 Jul 17;21(14) doi: 10.3390/ijms21145047. PMID: 32709015Free PMC Article
Omura J, Habbout K, Shimauchi T, Wu WH, Breuils-Bonnet S, Tremblay E, Martineau S, Nadeau V, Gagnon K, Mazoyer F, Perron J, Potus F, Lin JH, Zafar H, Kiely DG, Lawrie A, Archer SL, Paulin R, Provencher S, Boucherat O, Bonnet S
Circulation 2020 Oct 13;142(15):1464-1484. Epub 2020 Jul 23 doi: 10.1161/CIRCULATIONAHA.120.047626. PMID: 32698630
Bei Y, Chen T, Banciu DD, Cretoiu D, Xiao J
Adv Exp Med Biol 2017;998:255-269. doi: 10.1007/978-981-10-4397-0_17. PMID: 28936745

Recent systematic reviews

Szydlowska-Gladysz J, Gorecka AE, Stepien J, Rysz I, Ben-Skowronek I
Int J Mol Sci 2024 Apr 2;25(7) doi: 10.3390/ijms25073966. PMID: 38612776Free PMC Article
Belaidi E, Khouri C, Harki O, Baillieul S, Faury G, Briançon-Marjollet A, Pépin JL, Arnaud C
Eur Respir Rev 2022 Jun 30;31(164) Epub 2022 Apr 13 doi: 10.1183/16000617.0269-2021. PMID: 35418489Free PMC Article
Berger SG, Sjaastad I, Stokke MK
Scand Cardiovasc J 2021 Aug;55(4):195-204. Epub 2021 Mar 24 doi: 10.1080/14017431.2021.1901979. PMID: 33759664

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