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Abnormal cardiomyocyte morphology

MedGen UID:
1625045
•Concept ID:
C4531192
•
Anatomical Abnormality
Synonym: Abnormal cardiac muscle cell morphology
 
HPO: HP:0031331

Definition

Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. [from HPO]

Professional guidelines

PubMed

Pathophysiology and mechanisms of primary sarcopenia (Review).
Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Molecular Approaches in Single Ventricle Management.
Toubat O, Kumar SR
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2020;23:77-85. doi: 10.1053/j.pcsu.2020.03.003. PMID: 32354551Free PMC Article
Molecular and cellular basis of the aetiology and management of diabetic cardiomyopathy: a short review.
Adeghate E
Mol Cell Biochem 2004 Jun;261(1-2):187-91. doi: 10.1023/b:mcbi.0000028755.86521.11. PMID: 15362503

Recent clinical studies

Etiology

Impact of peroxisome proliferator-activated receptor-α on diabetic cardiomyopathy.
Wang L, Cai Y, Jian L, Cheung CW, Zhang L, Xia Z
Cardiovasc Diabetol 2021 Jan 4;20(1):2. doi: 10.1186/s12933-020-01188-0. PMID: 33397369Free PMC Article
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Toepfer CN, Garfinkel AC, Venturini G, Wakimoto H, Repetti G, Alamo L, Sharma A, Agarwal R, Ewoldt JK, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood CS, Watkins HC, Day SM, Staples JF, Padrón R, Chopra A, Ho CY, Chen CS, Pereira AC, Seidman JG, Seidman CE
Circulation 2020 Mar 10;141(10):828-842. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.042339. PMID: 31983222Free PMC Article
Diabetic Cardiomyopathy: An Update of Mechanisms Contributing to This Clinical Entity.
Jia G, Hill MA, Sowers JR
Circ Res 2018 Feb 16;122(4):624-638. doi: 10.1161/CIRCRESAHA.117.311586. PMID: 29449364Free PMC Article
Hypertrophic cardiomyopathy.
Santos Mateo JJ, Sabater Molina M, Gimeno Blanes JR
Med Clin (Barc) 2018 Jun 8;150(11):434-442. Epub 2017 Nov 14 doi: 10.1016/j.medcli.2017.09.013. PMID: 29150126
Arrhythmogenic Cardiomyopathy.
Corrado D, Basso C, Judge DP
Circ Res 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. PMID: 28912183

Diagnosis

The role of mitochondrial dysfunction in cardiovascular disease: a brief review.
Chistiakov DA, Shkurat TP, Melnichenko AA, Grechko AV, Orekhov AN
Ann Med 2018 Mar;50(2):121-127. Epub 2017 Dec 18 doi: 10.1080/07853890.2017.1417631. PMID: 29237304
Hypertrophic cardiomyopathy.
Santos Mateo JJ, Sabater Molina M, Gimeno Blanes JR
Med Clin (Barc) 2018 Jun 8;150(11):434-442. Epub 2017 Nov 14 doi: 10.1016/j.medcli.2017.09.013. PMID: 29150126
Arrhythmogenic Cardiomyopathy.
Corrado D, Basso C, Judge DP
Circ Res 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. PMID: 28912183
A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.
Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, Henze M, Kawas R, Oslob JD, Rodriguez HM, Song Y, Wan W, Leinwand LA, Spudich JA, McDowell RS, Seidman JG, Seidman CE
Science 2016 Feb 5;351(6273):617-21. doi: 10.1126/science.aad3456. PMID: 26912705Free PMC Article
Myofibrillar myopathies.
Selcen D
Neuromuscul Disord 2011 Mar;21(3):161-71. Epub 2011 Jan 20 doi: 10.1016/j.nmd.2010.12.007. PMID: 21256014Free PMC Article

Therapy

Physiological and pathological roles of protein kinase A in the heart.
Liu Y, Chen J, Fontes SK, Bautista EN, Cheng Z
Cardiovasc Res 2022 Jan 29;118(2):386-398. doi: 10.1093/cvr/cvab008. PMID: 33483740Free PMC Article
Impact of peroxisome proliferator-activated receptor-α on diabetic cardiomyopathy.
Wang L, Cai Y, Jian L, Cheung CW, Zhang L, Xia Z
Cardiovasc Diabetol 2021 Jan 4;20(1):2. doi: 10.1186/s12933-020-01188-0. PMID: 33397369Free PMC Article
Enhanced Cardiomyocyte NLRP3 Inflammasome Signaling Promotes Atrial Fibrillation.
Yao C, Veleva T, Scott L Jr, Cao S, Li L, Chen G, Jeyabal P, Pan X, Alsina KM, Abu-Taha I Dr, Ghezelbash S, Reynolds CL, Shen YH, LeMaire SA, Schmitz W, Müller FU, El-Armouche A, Tony Eissa N, Beeton C, Nattel S, Wehrens XHT, Dobrev D, Li N
Circulation 2018 Nov 13;138(20):2227-2242. doi: 10.1161/CIRCULATIONAHA.118.035202. PMID: 29802206Free PMC Article
Arrhythmogenic Cardiomyopathy.
Corrado D, Basso C, Judge DP
Circ Res 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. PMID: 28912183
A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.
Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, Henze M, Kawas R, Oslob JD, Rodriguez HM, Song Y, Wan W, Leinwand LA, Spudich JA, McDowell RS, Seidman JG, Seidman CE
Science 2016 Feb 5;351(6273):617-21. doi: 10.1126/science.aad3456. PMID: 26912705Free PMC Article

Prognosis

Pathophysiology and mechanisms of primary sarcopenia (Review).
Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Toepfer CN, Garfinkel AC, Venturini G, Wakimoto H, Repetti G, Alamo L, Sharma A, Agarwal R, Ewoldt JK, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood CS, Watkins HC, Day SM, Staples JF, Padrón R, Chopra A, Ho CY, Chen CS, Pereira AC, Seidman JG, Seidman CE
Circulation 2020 Mar 10;141(10):828-842. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.042339. PMID: 31983222Free PMC Article
Arrhythmogenic Cardiomyopathy.
Corrado D, Basso C, Judge DP
Circ Res 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. PMID: 28912183
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M
Nat Rev Cardiol 2017 Apr;14(4):238-250. Epub 2016 Dec 22 doi: 10.1038/nrcardio.2016.203. PMID: 28004807Free PMC Article
Alcoholic cardiomyopathy.
Iacovoni A, De Maria R, Gavazzi A
J Cardiovasc Med (Hagerstown) 2010 Dec;11(12):884-92. doi: 10.2459/JCM.0b013e32833833a3. PMID: 20308914

Clinical prediction guides

Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy.
Nishiyama T, Zhang Y, Cui M, Li H, Sanchez-Ortiz E, McAnally JR, Tan W, Kim J, Chen K, Xu L, Bassel-Duby R, Olson EN
Sci Transl Med 2022 Nov 23;14(672):eade1633. doi: 10.1126/scitranslmed.ade1633. PMID: 36417486Free PMC Article
Integrated multi-omic characterization of congenital heart disease.
Hill MC, Kadow ZA, Long H, Morikawa Y, Martin TJ, Birks EJ, Campbell KS, Nerbonne J, Lavine K, Wadhwa L, Wang J, Turaga D, Adachi I, Martin JF
Nature 2022 Aug;608(7921):181-191. Epub 2022 Jun 22 doi: 10.1038/s41586-022-04989-3. PMID: 35732239Free PMC Article
Cardiomyopathies and Adrenal Diseases.
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
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Toepfer CN, Garfinkel AC, Venturini G, Wakimoto H, Repetti G, Alamo L, Sharma A, Agarwal R, Ewoldt JK, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood CS, Watkins HC, Day SM, Staples JF, Padrón R, Chopra A, Ho CY, Chen CS, Pereira AC, Seidman JG, Seidman CE
Circulation 2020 Mar 10;141(10):828-842. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.042339. PMID: 31983222Free PMC Article
Arrhythmogenic Cardiomyopathy.
Corrado D, Basso C, Judge DP
Circ Res 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. PMID: 28912183

Recent systematic reviews

Sudden cardiac death owing to arrhythmogenic right ventricular cardiomyopathy: Two case reports and systematic literature review.
Mu J, Zhang G, Xue D, Xi M, Qi J, Dong H
Medicine (Baltimore) 2017 Nov;96(47):e8808. doi: 10.1097/MD.0000000000008808. PMID: 29381985Free PMC Article

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