Dilated cardiomyopathy and myocarditis: a clinical case

O.V. Onyshchenko, D.V. Riabenko, O.A. Yepanchintseva

References

1. Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P. FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations. Clin Genet. 2019 Oct;96(4):317-29. doi: 10.1111/cge.13594. Epub 2019 Jul 18. PMID: 31245841.
2. Anastasi G, Cutroneo G, Trimarchi F, Santoro G, Bruschetta D, Bramanti P, Pisani A, Favaloro A. Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study. Int J Mol Med. 2004 Dec;14(6):989-99. PMID: 15547664.
3. Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP. 2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology. Eur Heart J. 2023;ehad194. doi: 10.1093/eurheartj/ehad194.
4. Begay RL, Graw SL, Sinagra G, Asimaki A, Rowland TJ, Slavov DB, Gowan K, Jones KL, Brun F, Merlo M, Miani D, Sweet M, Devaraj K, Wartchow EP, Gigli M, Puggia I, Salcedo EE, Garrity DM, Ambardekar AV, Buttrick P, Reece TB, Bristow MR, Saffitz JE, Mestroni L, Taylor MRG. Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures. JACC Clin Electrophysiol. 2018 Apr;4(4):504-14. doi: 10.1016/j.jacep.2017.12.003. Epub 2018 Feb 2. PMID: 30067491; PMCID: PMC6074050.
5. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. PMID: 23975875; PMCID: PMC3795603.
6. Furst DO, Goldfarb LG, Kley RA, Vorgerd M, Olive M, van der Ven PF. Filamin C-related myopathies: Pathology and mechanisms. Acta Neuropathologica. 2013;125(1):33-46. doi: 10.1007/s00401-012-1054-9.
7. Gerull B, Gramlich M, Atherton J, McNabb M, Trombitas K, Sasse-Klaassen S, Seidman JG, Seidman C, Granzier H, Labeit S, Frenneaux M, Thierfelder L. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002 Feb;30(2):201-4. doi: 10.1038/ng815. Epub 2002 Jan 14.
8. Gerull B. The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy. Can J Cardiol. 2015 Nov;31(11):1351-9. doi: 10.1016/j.cjca.2015.08.016.
9. Hackman JP, Vihola AK, Udd AB. The role of titin in muscular disorders. Ann Med. 2003;35(6):434-41. doi: 10.1080/07853890310012797.
10. Hackman P, Marchand S, Sarparanta J, Vihola A, Penisson-Besnier I, Eymard B, Pardal-Fernandez JM, Hammouda el-H, Richard I, Illa I, Udd B. Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010. Epub 2008 Oct 22
11. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186. PMID: 22335739; PMCID: PMC3660031.
12. Janin A, N’Guyen K, Habib G, Dauphin C, Chanavat V, Bouvagnet P, Eschalier R, Streichenberger N, Chevalier P, Millat G. Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. Clin Genet. 2017 Dec;92(6):616-.23. doi: 10.1111/cge.13043. Epub 2017 May 18. PMID: 28436997.
13. Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, Celeghin R, Edwards M, Fan J, Ingles J, James CA, Jarinova O, Johnson R, Judge DP, Lahrouchi N, Lekanne Deprez RH, Lumbers RT, Mazzarotto F, Medeiros Domingo A, Miller RL, Morales A, Murray B, Peters S, Pilichou K, Protonotarios A, Semsarian C, Shah P, Syrris P, Thaxton C, van Tintelen JP, Walsh R, Wang J, Ware J, Hershberger RE. Evidence-Based Assessment of Genes in Dilated Cardiomyopathy. Circulation. 2021 Jul 6;144(1):7-19. doi: 10.1161/CIRCULATIONAHA.120.053033. 
14. Kley RA, van der Ven PF, Olivé M, Höhfeld J, Goldfarb LG, Fürst DO, Vorgerd M. Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. Autophagy. 2013 Mar;9(3):422-3. doi: 10.4161/auto.22921.
15. Mahon NG, Murphy RT, MacRae CA, Caforio AL, Elliott PM, McKenna WJ. Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med. 2005;143:108-15 doi: 10.7326/0003-4819-143-2-200507190-00009.
16. Palmio J, Evila A, Chapon F, Tasca G, Xiang F, Bradvik B, Eymard B, Echaniz-Laguna A, Laporte J, Karppa M, Mahjneh I, Quinlivan R, Laforet P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Golitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schroder R, Edstrom L, Oldfors A, Hackman P, Udd B. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19.
17. Parrini E, Sgadò P, Guerrini R. Single Gene Mutations Causing Epileptogenic Malformations of the Cerebral Cortex. In: PA Schwartzkroin, Editor(s). Encyclopedia of Basic Epilepsy Research. Academic Press; 2009. P. 1521-30. ISBN 9780123739612. https://doi.org/10.1016/B978-012373961-2.00090-4
18. Penisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Cremieux I, Udd B. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1200-2. doi: 10.1136/jnnp.2009.178434. Epub 2010 Jun 22.
19. van den Akker M, Buntinx F, Roos S, Knottnerus JA. Comorbidity or multimorbidity: what’s in a name? A review of the literature. Eur J Gen Pract. 1996;2(2):65-70. https://doi.org/10.3109/13814789609162146.
20. van den Bogaart FJ, Claeys KG, Kley RA, Kusters B, Schrading S, Kamsteeg EJ, Voermans NC. Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC. Neuromuscul Disord. 2017 Jan;27(1):73-7. doi: 10.1016/j.nmd.2016.09.017. 
21. Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. A mutation update for the FLNC gene in myopathies and cardiomyopathies. Hum Mutat. 2020 Jun;41(6):1091-111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. PMID: 32112656; PMCID: PMC7318287.
22. Vorgerd M, van der Ven PF, Bruchertseifer V, Löwe T, Kley RA, Schröder R, Lochmüller H, Himmel M, Koehler K, Fürst DO, Huebner A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005 Aug;77(2):297-304. doi: 10.1086/431959. 
23. Jahed Z, Shams H, Mehrbod M, Mofrad MR. Mechano­­transduction pathways linking the extracellular matrix to the nucleus. Int Rev Cell Mol Biol. 2014;310:171-220. doi: 10.1016/B978-0-12-800180-6.00005-0.
24. Zhang M, Liu J, Cheng A, Deyoung SM, Saltiel AR. Identification of CAP as a costameric protein that interacts with filamin C. Mol Biol Cell. 2007 Dec;18(12):4731-40. doi: 10.1091/mbc.e07-06-0628.