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Abnormal sarcomere morphology

MedGen UID:
1709260
•Concept ID:
C5397582
•
Cell or Molecular Dysfunction
HPO: HP:0020201

Definition

Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks. [from HPO]

Professional guidelines

PubMed

Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines.
Kauffman H, Ahrens-Nicklas RC, Calderon-Anyosa RJC, Ritter AL, Lin KY, Rossano JW, Quartermain MD, Banerjee A
Pediatr Res 2021 Aug;90(2):444-451. Epub 2020 Dec 14 doi: 10.1038/s41390-020-01292-7. PMID: 33318624
Ventricular non-compaction cardiomyopathy: prenatal diagnosis and pathology.
Tian L, Zhou Q, Zhou J, Zeng S, Cao D, Zhang M
Prenat Diagn 2015 Mar;35(3):221-7. Epub 2014 Dec 12 doi: 10.1002/pd.4523. PMID: 25346355
Multi-scale computational models of familial hypertrophic cardiomyopathy: genotype to phenotype.
Campbell SG, McCulloch AD
J R Soc Interface 2011 Nov 7;8(64):1550-61. Epub 2011 Aug 10 doi: 10.1098/rsif.2011.0184. PMID: 21831889Free PMC Article

Recent clinical studies

Etiology

3-Dimensional Strain Analysis of Hypertrophic Cardiomyopathy: Insights From the NHLBI International HCM Registry.
Heydari B, Satriano A, Jerosch-Herold M, Kolm P, Kim DY, Cheng K, Choi YL, Antiochos P, White JA, Mahmod M, Chan K, Raman B, Desai MY, Ho CY, Dolman SF, Desvigne-Nickens P, Maron MS, Friedrich MG, Schulz-Menger J, Piechnik SK, Appelbaum E, Weintraub WS, Neubauer S, Kramer CM, Kwong RY; HCMR Investigators
JACC Cardiovasc Imaging 2023 Apr;16(4):478-491. Epub 2022 Dec 14 doi: 10.1016/j.jcmg.2022.10.005. PMID: 36648040Free PMC Article
Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free 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
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
Molecular pathology of myofibrillar myopathies.
Ferrer I, Olivé M
Expert Rev Mol Med 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. PMID: 18764962

Diagnosis

3-Dimensional Strain Analysis of Hypertrophic Cardiomyopathy: Insights From the NHLBI International HCM Registry.
Heydari B, Satriano A, Jerosch-Herold M, Kolm P, Kim DY, Cheng K, Choi YL, Antiochos P, White JA, Mahmod M, Chan K, Raman B, Desai MY, Ho CY, Dolman SF, Desvigne-Nickens P, Maron MS, Friedrich MG, Schulz-Menger J, Piechnik SK, Appelbaum E, Weintraub WS, Neubauer S, Kramer CM, Kwong RY; HCMR Investigators
JACC Cardiovasc Imaging 2023 Apr;16(4):478-491. Epub 2022 Dec 14 doi: 10.1016/j.jcmg.2022.10.005. PMID: 36648040Free PMC Article
Altered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy.
Ranjbarvaziri S, Kooiker KB, Ellenberger M, Fajardo G, Zhao M, Vander Roest AS, Woldeyes RA, Koyano TT, Fong R, Ma N, Tian L, Traber GM, Chan F, Perrino J, Reddy S, Chiu W, Wu JC, Woo JY, Ruppel KM, Spudich JA, Snyder MP, Contrepois K, Bernstein D
Circulation 2021 Nov 23;144(21):1714-1731. Epub 2021 Oct 21 doi: 10.1161/CIRCULATIONAHA.121.053575. PMID: 34672721Free 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
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
Genetic advances in sarcomeric cardiomyopathies: state of the art.
Ho CY, Charron P, Richard P, Girolami F, Van Spaendonck-Zwarts KY, Pinto Y
Cardiovasc Res 2015 Apr 1;105(4):397-408. Epub 2015 Jan 29 doi: 10.1093/cvr/cvv025. PMID: 25634555Free PMC Article

Therapy

Lycium barbarum polysaccharides restore adverse structural remodelling and cardiac contractile dysfunction induced by overexpression of microRNA-1.
Zhang R, Xu Y, Niu H, Tao T, Ban T, Zheng L, Ai J
J Cell Mol Med 2018 Oct;22(10):4830-4839. Epub 2018 Aug 17 doi: 10.1111/jcmm.13740. PMID: 30117672Free 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
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
Oder D, Liu D, Hu K, Üçeyler N, Salinger T, Müntze J, Lorenz K, Kandolf R, Gröne HJ, Sommer C, Ertl G, Wanner C, Nordbeck P
Circ Cardiovasc Genet 2017 Oct;10(5) doi: 10.1161/CIRCGENETICS.116.001691. PMID: 29018006
The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy.
Koeppen AH, Becker AB, Feustel PJ, Gelman BB, Mazurkiewicz JE
J Neurol Sci 2016 Aug 15;367:171-6. Epub 2016 Jun 4 doi: 10.1016/j.jns.2016.06.006. PMID: 27423584
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

Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity.
Birker K, Ge S, Kirkland NJ, Theis JL, Marchant J, Fogarty ZC, Missinato MA, Kalvakuri S, Grossfeld P, Engler AJ, Ocorr K, Nelson TJ, Colas AR, Olson TM, Vogler G, Bodmer R
Elife 2023 Jul 5;12 doi: 10.7554/eLife.83385. PMID: 37404133Free PMC Article
3-Dimensional Strain Analysis of Hypertrophic Cardiomyopathy: Insights From the NHLBI International HCM Registry.
Heydari B, Satriano A, Jerosch-Herold M, Kolm P, Kim DY, Cheng K, Choi YL, Antiochos P, White JA, Mahmod M, Chan K, Raman B, Desai MY, Ho CY, Dolman SF, Desvigne-Nickens P, Maron MS, Friedrich MG, Schulz-Menger J, Piechnik SK, Appelbaum E, Weintraub WS, Neubauer S, Kramer CM, Kwong RY; HCMR Investigators
JACC Cardiovasc Imaging 2023 Apr;16(4):478-491. Epub 2022 Dec 14 doi: 10.1016/j.jcmg.2022.10.005. PMID: 36648040Free PMC Article
LncRNAs in cardiac hypertrophy: From basic science to clinical application.
Liu L, Zhang D, Li Y
J Cell Mol Med 2020 Oct;24(20):11638-11645. Epub 2020 Sep 8 doi: 10.1111/jcmm.15819. PMID: 32896990Free 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
Genetic advances in sarcomeric cardiomyopathies: state of the art.
Ho CY, Charron P, Richard P, Girolami F, Van Spaendonck-Zwarts KY, Pinto Y
Cardiovasc Res 2015 Apr 1;105(4):397-408. Epub 2015 Jan 29 doi: 10.1093/cvr/cvv025. PMID: 25634555Free PMC Article

Clinical prediction guides

Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity.
Birker K, Ge S, Kirkland NJ, Theis JL, Marchant J, Fogarty ZC, Missinato MA, Kalvakuri S, Grossfeld P, Engler AJ, Ocorr K, Nelson TJ, Colas AR, Olson TM, Vogler G, Bodmer R
Elife 2023 Jul 5;12 doi: 10.7554/eLife.83385. PMID: 37404133Free PMC Article
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B
Acta Neuropathol 2023 Jun;145(6):793-814. Epub 2023 Mar 31 doi: 10.1007/s00401-023-02565-1. PMID: 37000196Free PMC Article
3-Dimensional Strain Analysis of Hypertrophic Cardiomyopathy: Insights From the NHLBI International HCM Registry.
Heydari B, Satriano A, Jerosch-Herold M, Kolm P, Kim DY, Cheng K, Choi YL, Antiochos P, White JA, Mahmod M, Chan K, Raman B, Desai MY, Ho CY, Dolman SF, Desvigne-Nickens P, Maron MS, Friedrich MG, Schulz-Menger J, Piechnik SK, Appelbaum E, Weintraub WS, Neubauer S, Kramer CM, Kwong RY; HCMR Investigators
JACC Cardiovasc Imaging 2023 Apr;16(4):478-491. Epub 2022 Dec 14 doi: 10.1016/j.jcmg.2022.10.005. PMID: 36648040Free 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
Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations.
Olivotto I, d'Amati G, Basso C, Van Rossum A, Patten M, Emdin M, Pinto Y, Tomberli B, Camici PG, Michels M
Cardiovasc Res 2015 Apr 1;105(4):409-23. Epub 2015 Jan 28 doi: 10.1093/cvr/cvv024. PMID: 25631583

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