Cited by 37Cardiomyopathy and Myosin StudiesViral Infections and Immunology ResearchCardiovascular Effects of Exercise

Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench

Open access
Peretto, Giovanni, Sommariva, Elena, Di Resta, Chiara, Rabino, Martina, Villatore, Andrea, Lazzeroni, Davide, Sala, Simone, Pompilio, Giulio +1 more·2023·Biomolecules

Abstract

Over recent years, preclinical and clinical evidence has implicated myocardial inflammation (M-Infl) in the pathophysiology and phenotypes of traditionally genetic cardiomyopathies. M-Infl resembling myocarditis on imaging and histology occurs frequently as a clinical manifestation of classically genetic cardiac diseases, including dilated and arrhythmogenic cardiomyopathy. The emerging role of M-Infl in disease pathophysiology is leading to the identification of druggable targets for molecular treatment of the inflammatory process and a new paradigm in the field of cardiomyopathies. Cardiomyopathies constitute a leading cause of heart failure and arrhythmic sudden death in the young population. The aim of this review is to present, from bedside to bench, the current state of the art about the genetic basis of M-Infl in nonischemic cardiomyopathies of the dilated and arrhythmogenic spectrum in order to prompt future research towards the identification of novel mechanisms and treatment targets, with the ultimate goal of lowering disease morbidity and mortality.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.3390/biom13040646

Cites

9 of 9 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Lymphocytic myocarditis is primarily associated with viral infections, characterized by histological observations of myocardial infiltration predominantly by T lymphocytes.

    “Lymphocytic myocarditis is primarily associated with viral infections, characterized by histological observations of myocardial infiltration predominantly by T lymphocytes”

    From Autoimmune Myocarditis, Old Dogs and New Tricks. (2024) · cites this paper as [144]

    The Introduction (§1.1; page unavailable) lists viral infections among the main recognized causes of myocarditis, but does not say they are the primary cause of lymphocytic myocarditis. The autopsy discussion (§2.2; page unavailable) reports T-lymphocyte staining in classic myocarditis, but does not establish that T lymphocytes predominate in its infiltrates. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 141

  1. [1]Richardson P. McKenna R.W. Bristow M. Maisch B. Mautner B. O’Connell J. Olsen E. Thiene G. Goodwin J. Gyarfas I. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies Circulation 1996 93 841 842 10.1161/01.CIR.93.5.841 8598070 · DOI · Paper page
  2. [2]Tschöpe C. Ammirati E. Bozkurt B. Caforio A.L.P. Cooper L.T. Felix S.B. Hare J.M. Heidecker B. Heymans S. Hübner N. Myocarditis and Inflammatory Cardiomyopathy: Current Evidence and Future Directions Nat. Rev. Cardiol. 2021 18 169 193 10.1038/s41569-020-00435-x 33046850 PMC7548534 · DOI · Paper page
  3. [3]Peretto G. Sala S. della Bella P. Basso C. Cooper L.T. Reply: Genetic Basis for Acute Myocarditis Presenting with Ventricular Arrhythmias? J. Am. Coll. Cardiol. 2020 76 126 128 10.1016/j.jacc.2020.05.014 32616153 · DOI
  4. [4]Peretto G. Sala S. Rizzo S. de Luca G. Campochiaro C. Sartorelli S. Benedetti G. Palmisano A. Esposito A. Tresoldi M. Arrhythmias in Myocarditis: State of the Art Heart Rhythm. 2019 16 793 801 10.1016/j.hrthm.2018.11.024 30476544 · DOI
  5. [5]Peretto G. Casella M. Merlo M. Benedetti S. Rizzo S. Cappelletto C. Di Resta C. Compagnucci P. De Gaspari M. Dello Russo A. Inflammation on Endomyocardial Biopsy Predicts Risk of Subsequent Adverse Cardiovascular Events in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy JACC Clin. Electrophysiol. 2022 S2405-500X(22)00949-5 10.1016/j.jacep.2022.10.032 36752457 · DOI
  6. [6]Caforio A.L.P. Pankuweit S. Arbustini E. Basso C. Gimeno-Blanes J. Felix S.B. Fu M. Heliö T. Heymans S. Jahns R. Current State of Knowledge on Aetiology, Diagnosis, Management, and Therapy of Myocarditis: A Position Statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases Eur. Heart J. 2013 34 2636 2648 10.1093/eurheartj/eht210 23824828 · DOI · Paper page
  7. [8]Aretz H.T. Billingham M.E. Edwards W.D. Factor S.M. Fallon J.T. Fenoglio J.J. Jr. Olsen E.G. Schoen F.J. Myocarditis. A Histopathologic Definition and Classification Am. J. Cardiovasc. Pathol. 1987 1 3 14 3455232
  8. [9]Zeppenfeld K. Tfelt-Hansen J. de Riva M. Winkel B.G. Behr E.R. Blom N.A. Charron P. Corrado D. Dagres N. de Chillou C. 2022 ESC Guidelines for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death Eur. Heart J. 2022 43 3997 4126 10.1093/eurheartj/ehac262 36017572 · DOI
  9. [10]Elliott P. Andersson B. Arbustini E. Bilinska Z. Cecchi F. Charron P. Dubourg O. Kühl U. Maisch B. McKenna W.J. Classification of the Cardiomyopathies: A Position Statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases Eur. Heart J. 2008 29 270 276 10.1093/eurheartj/ehm342 17916581 · DOI
  10. [11]Maron B.J. Towbin J.A. Thiene G. Antzelevitch C. Corrado D. Arnett D. Moss A.J. Seidman C.E. Young J.B. Contemporary Definitions and Classification of the Cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention Circulation 2006 113 1807 1816 10.1161/CIRCULATIONAHA.106.174287 16567565 · DOI
  11. [12]Pinto Y.M. Elliott P.M. Arbustini E. Adler Y. Anastasakis A. Böhm M. Duboc D. Gimeno J. de Groote P. Imazio M. Proposal for a Revised Definition of Dilated Cardiomyopathy, Hypokinetic Non-Dilated Cardiomyopathy, and Its Implications for Clinical Practice: A Position Statement of the ESC Working Group on Myocardial and Pericardial Diseases Eur. Heart J. 2016 37 1850 1858 10.1093/eurheartj/ehv727 26792875 · DOI
  12. [13]Towbin J.A. McKenna W.J. Abrams D.J. Ackerman M.J. Calkins H. Darrieux F.C.C. Daubert J.P. de Chillou C. DePasquale E.C. Desai M.Y. 2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy Heart Rhythm. 2019 16 e301 e372 10.1016/j.hrthm.2019.05.007 31078652 · DOI
  13. [14]Corrado D. Perazzolo Marra M. Zorzi A. Beffagna G. Cipriani A. de Lazzari M. Migliore F. Pilichou K. Rampazzo A. Rigato I. Diagnosis of Arrhythmogenic Cardiomyopathy: The Padua Criteria Int. J. Cardiol. 2020 319 106 114 10.1016/j.ijcard.2020.06.005 32561223 · DOI
  14. [15]Peretto G. Cappelletti A.M. Spoladore R. Slavich M. Rizzo S. Palmisano A. Esposito A. de Cobelli F. Margonato A. Basso C. Right Ventricular Endomyocardial Biopsy in Patients with Cardiac Magnetic Resonance Showing Left Ventricular Myocarditis J. Cardiovasc. Med. 2021 22 560 566 10.2459/JCM.0000000000001162 34076604 · DOI
  15. [16]Ferreira V.M. Schulz-Menger J. Holmvang G. Kramer C.M. Carbone I. Sechtem U. Kindermann I. Gutberlet M. Cooper L.T. Liu P. Cardiovascular Magnetic Resonance in Nonischemic Myocardial Inflammation: Expert Recommendations J. Am. Coll. Cardiol. 2018 72 3158 3176 10.1016/j.jacc.2018.09.072 30545455 · DOI · Paper page
  16. [17]Peretto G. Busnardo E. Ferro P. Palmisano A. Vignale D. Esposito A. de Luca G. Campochiaro C. Sartorelli S. de Gaspari M. Clinical Applications of FDG-PET Scan in Arrhythmic Myocarditis JACC Cardiovasc. Imaging 2022 15 1771 1780 10.1016/j.jcmg.2022.02.029 36202457 · DOI
  17. [18]Smith E.D. Lakdawala N.K. Papoutsidakis N. Aubert G. Mazzanti A. McCanta A.C. Agarwal P.P. Arscott P. Dellefave-Castillo L.M. Vorovich E.E. Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy Circulation 2020 141 1872 1884 10.1161/CIRCULATIONAHA.119.044934 32372669 PMC7286080 · DOI · Paper page
  18. [20]Piriou N. Marteau L. Kyndt F. Serfaty J.M. Toquet C. le Gloan L. Warin-Fresse K. Guijarro D. le Tourneau T. Conan E. Familial Screening in Case of Acute Myocarditis Reveals Inherited Arrhythmogenic Left Ventricular Cardiomyopathies ESC Heart Fail. 2020 7 1520 1533 10.1002/ehf2.12686 32356610 PMC7373927 · DOI
  19. [21]Bariani R. Cipriani A. Rizzo S. Celeghin R. Bueno Marinas M. Giorgi B. de Gaspari M. Rigato I. Leoni L. Zorzi A. “Hot Phase” Clinical Presentation in Arrhythmogenic Cardiomyopathy Europace 2021 23 907 917 10.1093/europace/euaa343 33313835 PMC8184227 · DOI · Paper page
  20. [22]Ammirati E. Raimondi F. Piriou N. Sardo Infirri L. Mohiddin S.A. Mazzanti A. Shenoy C. Cavallari U.A. Imazio M. Aquaro G.D. Acute Myocarditis Associated With Desmosomal Gene Variants JACC Heart Fail. 2022 10 714 727 10.1016/j.jchf.2022.06.013 36175056 · DOI · Paper page
  21. [23]Hata Y. Hirono K. Yamaguchi Y. Ichida F. Oku Y. Nishida N. Minimal Inflammatory Foci of Unknown Etiology May Be a Tentative Sign of Early Stage Inherited Cardiomyopathy Mod. Pathol. 2019 32 1281 1290 10.1038/s41379-019-0274-0 31024045 · DOI
  22. [24]Mahon N.G. Madden B.P. Caforio A.L.P. Elliott P.M. Haven A.J. Keogh B.E. Davies M.J. McKenna W.J. Immunohistologic Evidence of Myocardial Disease in Apparently Healthy Relatives of Patients with Dilated Cardiomyopathy J. Am. Coll. Cardiol. 2002 39 455 462 10.1016/S0735-1097(01)01762-4 11823084 · DOI
  23. [25]Poller W. Escher F. Haas J. Heidecker B. Schultheiss H.P. Attanasio P. Skurk C. Haghikia A. Meder B. Klaassen S. Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation JACC Case Rep. 2022 4 280 286 10.1016/j.jaccas.2022.01.016 35257103 PMC8897185 · DOI
  24. [26]Hershberger R.E. Hedges D.J. Morales A. Dilated Cardiomyopathy: The Complexity of a Diverse Genetic Architecture Nat. Rev. Cardiol. 2013 10 531 547 10.1038/nrcardio.2013.105 23900355 · DOI
  25. [27]Casella M. Gasperetti A. Gaetano F. Busana M. Sommariva E. Catto V. Sicuso R. Rizzo S. Conte E. Mushtaq S. Long-Term Follow-up Analysis of a Highly Characterized Arrhythmogenic Cardiomyopathy Cohort with Classical and Non-Classical Phenotypes-a Real-World Assessment of a Novel Prediction Model: Does the Subtype Really Matter Europace 2020 22 797 805 10.1093/europace/euz352 31942607 · DOI
  26. [28]Peretto G. Mazzone P. Arrhythmogenic Cardiomyopathy: One, None and a Hundred Thousand Diseases J. Pers. Med. 2022 12 1256 10.3390/jpm12081256 36013207 PMC9409808 · DOI
  27. [29]Charron P. Arad M. Arbustini E. Basso C. Bilinska Z. Elliott P. Helio T. Keren A. McKenna W.J. Monserrat L. Genetic Counselling and Testing in Cardiomyopathies: A Position Statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases Eur. Heart J. 2010 31 2715 2728 10.1093/eurheartj/ehq271 20823110 · DOI
  28. [31]Artico J. Merlo M. Delcaro G. Cannatà A. Gentile P. de Angelis G. Paldino A. Bussani R. Ferro M.D. Sinagra G. Lymphocytic Myocarditis: A Genetically Predisposed Disease? J. Am. Coll. Cardiol. 2020 75 3098 3100 10.1016/j.jacc.2020.04.048 32553263 · DOI
  29. [32]Cannata A. Artico J. Gentile P. Merlo M. Sinagra G. Myocarditis Evolving in Cardiomyopathy: When Genetics and Offending Causes Work Together Eur. Heart J. Suppl. 2019 21 B90 B95 10.1093/eurheartj/suz033 30948961 PMC6439912 · DOI
  30. [33]Knowlton K.U. Myocarditis: An Intersection Between Genetic and Acquired Causes of Human Cardiomyopathy J. Am. Coll. Cardiol. 2017 69 1666 1668 10.1016/j.jacc.2017.02.008 28359510 · DOI
  31. [34]Campuzano O. Fernández-Falgueras A. Sarquella-Brugada G. Sanchez O. Cesar S. Mademont I. Allegue C. Mates J. Pérez-Serra A. Coll M. A Genetically Vulnerable Myocardium May Predispose to Myocarditis J. Am. Coll. Cardiol. 2015 66 2913 2914 10.1016/j.jacc.2015.10.049 26718681 · DOI
  32. [35]Xiong D. Lee G.H. Badorff C. Dorner A. Lee S. Wolf P. Knowlton K.U. Dystrophin Deficiency Markedly Increases Enterovirus-Induced Cardiomyopathy: A Genetic Predisposition to Viral Heart Disease Nat. Med. 2002 8 872 877 10.1038/nm737 12118246 · DOI
  33. [36]Tiron C. Campuzano O. Fernández-Falgueras A. Alcalde M. Loma-Osorio P. Zamora E. Caballero A. Sarquella-Brugada G. Cesar S. Garcia-Cuenllas L. Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis Circ. Genom. Precis. Med. 2022 15 E003408 10.1161/CIRCGEN.121.003408 35522179 · DOI
  34. [37]Seidel F. Laser K.T. Klingel K. Dartsch J. Theisen S. Pickardt T. Holtgrewe M. Gärtner A. Berger F. Beule D. Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants? J. Cardiovasc. Dev. Dis. 2022 9 216 10.3390/jcdd9070216 35877578 PMC9321514 · DOI
  35. [39]Peretto G. Sala S. de Luca G. Marcolongo R. Campochiaro C. Sartorelli S. Tresoldi M. Foppoli L. Palmisano A. Esposito A. Immunosuppressive Therapy and Risk Stratification of Patients With Myocarditis Presenting With Ventricular Arrhythmias JACC Clin. Electrophysiol. 2020 6 1221 1234 10.1016/j.jacep.2020.05.013 33092747 · DOI · Paper page
  36. [40]Poller W. Haas J. Klingel K. Kühnisch J. Gast M. Kaya Z. Escher F. Kayvanpour E. Degener F. Opgen-Rhein B. Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene J. Am. Heart Assoc. 2020 9 e015289 10.1161/JAHA.119.015289 32410525 PMC7660888 · DOI
  37. [41]Chatterjee D. Fatah M. Akdis D. Spears D.A. Koopmann T.T. Mittal K. Rafiq M.A. Cattanach B.M. Zhao Q. Healey J.S. An Autoantibody Identifies Arrhythmogenic Right Ventricular Cardiomyopathy and Participates in Its Pathogenesis Eur. Heart J. 2018 39 3932 3944 10.1093/eurheartj/ehy567 30239670 PMC6247665 · DOI · Paper page
  38. [42]Al-Khatib S.M. Stevenson W.G. Ackerman M.J. Bryant W.J. Callans D.J. Curtis A.B. Deal B.J. Dickfeld T. Field M.E. Fonarow G.C. 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society J. Am. Coll. Cardiol. 2018 72 e91 e220 10.1016/J.JACC.2017.10.054 29097296 · DOI
  39. [43]Rizzo S. Carturan E. de Gaspari M. Pilichou K. Thiene G. Basso C. Update on Cardiomyopathies and Sudden Cardiac Death Forensic Sci. Res. 2019 4 202 210 10.1080/20961790.2019.1631957 31489386 PMC6713087 · DOI
  40. [44]Leone O. Veinot J.P. Angelini A. Baandrup U.T. Basso C. Berry G. Bruneval P. Burke M. Butany J. Calabrese F. 2011 Consensus Statement on Endomyocardial Biopsy from the Association for European Cardiovascular Pathology and the Society for Cardiovascular Pathology Cardiovasc. Pathol. 2012 21 245 274 10.1016/j.carpath.2011.10.001 22137237 · DOI
  41. [45]de Luca G. Campochiaro C. de Santis M. Sartorelli S. Peretto G. Sala S. Canestrari G. de Lorenzis E. Basso C. Rizzo S. Systemic Sclerosis Myocarditis Has Unique Clinical, Histological and Prognostic Features: A Comparative Histological Analysis Rheumatology 2020 59 2523 2533 10.1093/rheumatology/kez658 31990340 · DOI
  42. [46]Lobo V.F. Silver M.D. Butany J. Heggtveit H.A. Left Ventricular Involvement in Right Ventricular Dysplasia/Cardiomyopathy Can. J. Cardiol. 1999 15 1239 1247 10579739
  43. [47]Basso C. Thiene G. Corrado D. Angelini A. Nava A. Valente M. Arrhythmogenic Right Ventricular Cardiomyopathy. Dysplasia, Dystrophy, or Myocarditis? Circulation 1996 94 983 991 10.1161/01.CIR.94.5.983 8790036 · DOI · Paper page
  44. [48]di Resta C. Berg J. Villatore A. Maia M. Pili G. Fioravanti F. Tomaiuolo R. Sala S. Benedetti S. Peretto G. Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy? Genes 2022 13 1755 10.3390/genes13101755 36292641 PMC9602309 · DOI
  45. [49]Zampieri F. Zanatta A. Basso C. Thiene G. Cardiovascular Medicine in Morgagni’s De Sedibus: Dawn of Cardiovascular Pathology Cardiovasc. Pathol. 2016 25 443 452 10.1016/j.carpath.2016.07.004 27611360 · DOI
  46. [50]Gigli M. Merlo M. Graw S.L. Barbati G. Rowland T.J. Slavov D.B. Stolfo D. Haywood M.E. Dal Ferro M. Altinier A. Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy J. Am. Coll. Cardiol. 2019 74 1480 1490 10.1016/j.jacc.2019.06.072 31514951 PMC6750731 · DOI
  47. [51]Cipriani A. Bauce B. de Lazzari M. Rigato I. Bariani R. Meneghin S. Pilichou K. Motta R. Aliberti C. Thiene G. Arrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated Cardiomyopathy J. Am. Heart Assoc. 2020 9 e014628 10.1161/JAHA.119.014628 32114891 PMC7335583 · DOI
  48. [52]Augusto J.B. Eiros R. Nakou E. Moura-Ferreira S. Treibel T.A. Captur G. Akhtar M.M. Protonotarios A. Gossios T.D. Savvatis K. Dilated Cardiomyopathy and Arrhythmogenic Left Ventricular Cardiomyopathy: A Comprehensive Genotype-Imaging Phenotype Study Eur. Heart J. Cardiovasc. Imaging 2020 21 326 336 10.1093/ehjci/jez188 31317183 · DOI
  49. [53]Peretto G. di Resta C. Perversi J. Forleo C. Maggi L. Politano L. Barison A. Previtali S.C. Carboni N. Brun F. Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy Ann. Intern. Med. 2019 171 458 463 10.7326/M18-2768 31476771 · DOI
  50. [54]Peretto G. Sala S. Lazzeroni D. Palmisano A. Gigli L. Esposito A. de Cobelli F. Camici P.G. Mazzone P. Basso C. Septal Late Gadolinium Enhancement and Arrhythmic Risk in Genetic and Acquired Non-Ischaemic Cardiomyopathies Heart Lung Circ. 2020 29 1356 1365 10.1016/j.hlc.2019.08.018 32299760 · DOI
  51. [55]Protonotarios A. Wicks E. Ashworth M. Stephenson E. Guttmann O. Savvatis K. Sekhri N. Mohiddin S.A. Syrris P. Menezes L. Prevalence of 18F-Fluorodeoxyglucose Positron Emission Tomography Abnormalities in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy Int. J. Cardiol. 2019 284 99 104 10.1016/j.ijcard.2018.10.083 30409737 · DOI
  52. [56]Peretto G. Sala S. Rizzo S. Palmisano A. Esposito A. de Cobelli F. Campochiaro C. de Luca G. Foppoli L. Dagna L. Ventricular Arrhythmias in Myocarditis: Characterization and Relationships With Myocardial Inflammation J. Am. Coll. Cardiol. 2020 75 1046 1057 10.1016/j.jacc.2020.01.036 32138965 · DOI
  53. [57]Cronin E.M. Bogun F.M. Maury P. Peichl P. Chen M. Namboodiri N. Aguinaga L. Leite L.R. Al-Khatib S.M. Anter E. 2019 HRS/EHRA/APHRS/LAHRS Expert Consensus Statement on Catheter Ablation of Ventricular Arrhythmias Europace 2019 21 1143 1144 10.1093/europace/euz132 31075787 PMC7967791 · DOI
  54. [58]Peretto G. Sala S. Basso C. Rizzo S. Radinovic A. Frontera A. Limite L.R. Paglino G. Bisceglia C. de Luca G. Inflammation as a Predictor of Recurrent Ventricular Tachycardia After Ablation in Patients With Myocarditis J. Am. Coll. Cardiol. 2020 76 1644 1656 10.1016/j.jacc.2020.08.012 33004129 · DOI
  55. [59]Bowles N.E. Bowles K.R. Towbin J.A. The “Final Common Pathway” Hypothesis and Inherited Cardiovascular Disease. The Role of Cytoskeletal Proteins in Dilated Cardiomyopathy Herz 2000 25 168 175 10.1007/s000590050003 10904835 · DOI
  56. [60]Towbin J.A. Lorts A. Arrhythmias and Dilated Cardiomyopathy Common Pathogenetic Pathways? J. Am. Coll. Cardiol. 2011 57 2169 2171 10.1016/j.jacc.2010.11.061 21596232 · DOI
  57. [61]Sequeira V. Nijenkamp L.L.A.M. Regan J.A. van der Velden J. The Physiological Role of Cardiac Cytoskeleton and Its Alterations in Heart Failure Biochim. Biophys. Acta 2014 1838 700 722 10.1016/j.bbamem.2013.07.011 23860255 · DOI
  58. [62]Bermúdez-Jiménez F.J. Carriel V. Brodehl A. Alaminos M. Campos A. Schirmer I. Milting H. Abril B.Á. Álvarez M. López-Fernández S. Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia Circulation 2018 137 1595 1610 10.1161/CIRCULATIONAHA.117.028719 29212896 · DOI
  59. [63]Towbin J.A. Hejtmancik J.F. Brink P. Gelb B. Zhu X.M. Chamberlain J.S. McCabe E.R.B. Swift M. X-Linked Dilated Cardiomyopathy. Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus Circulation 1993 87 1854 1865 10.1161/01.CIR.87.6.1854 8504498 · DOI
  60. [64]Vatta M. Mohapatra B. Jimenez S. Sanchez X. Faulkner G. Perles Z. Sinagra G. Lin J.H. Vu T.M. Zhou Q. Mutations in Cypher/ZASP in Patients with Dilated Cardiomyopathy and Left Ventricular Non-Compaction J. Am. Coll. Cardiol. 2003 42 2014 2027 10.1016/j.jacc.2003.10.021 14662268 · DOI
  61. [65]Arimura T. Ishikawa T. Nunoda S. Kawai S. Kimura A. Dilated Cardiomyopathy-Associated BAG3 Mutations Impair Z-Disc Assembly and Enhance Sensitivity to Apoptosis in Cardiomyocytes Hum. Mutat. 2011 32 1481 1491 10.1002/humu.21603 21898660 · DOI
  62. [66]Vite A. Radice G.L. N-Cadherin/Catenin Complex as a Master Regulator of Intercalated Disc Function Cell Commun. Adhes. 2014 21 169 179 10.3109/15419061.2014.908853 24766605 PMC6054126 · DOI
  63. [67]Kamisago M. Sharma S.D. DePalma S.R. Solomon S. Sharma P. McDonough B. Smoot L. Mullen M.P. Woolf P.K. Wigle E.D. Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy N. Engl. J. Med. 2000 343 1688 1696 10.1056/NEJM200012073432304 11106718 · DOI · Paper page
  64. [68]Schmitt J.P. Kamisago M. Asahi M. Hua Li G. Ahmad F. Mende U. Kranias E.G. MacLennan D.H. Seidman J.G. Seidman C.E. Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban Science 2003 299 1410 1413 10.1126/science.1081578 12610310 · DOI
  65. [69]Vermij S.H. Abriel H. van Veen T.A.B. Refining the Molecular Organization of the Cardiac Intercalated Disc Cardiovasc. Res. 2017 113 259 275 10.1093/cvr/cvw259 28069669 · DOI
  66. [70]Rizzo S. Lodder E.M. Verkerk A.O. Wolswinkel R. Beekman L. Pilichou K. Basso C. Remme C.A. Thiene G. Bezzina C.R. Intercalated Disc Abnormalities, Reduced Na(+) Current Density, and Conduction Slowing in Desmoglein-2 Mutant Mice Prior to Cardiomyopathic Changes Cardiovasc. Res. 2012 95 409 418 10.1093/cvr/cvs219 22764152 · DOI
  67. [71]Gerull B. Heuser A. Wichter T. Paul M. Basson C.T. McDermott D.A. Lerman B.B. Markowitz S.M. Ellinor P.T. MacRae C.A. Mutations in the Desmosomal Protein Plakophilin-2 Are Common in Arrhythmogenic Right Ventricular Cardiomyopathy Nat. Genet. 2004 36 1162 1164 10.1038/ng1461 15489853 · DOI
  68. [72]te Riele A.S.J.M. James C.A. Sawant A.C. Bhonsale A. Groeneweg J.A. Mast T.P. Murray B. Tichnell C. Dooijes D. van Tintelen J.P. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Pediatric Population: Clinical Characterization and Comparison With Adult-Onset Disease JACC Clin. Electrophysiol. 2015 1 551 560 10.1016/j.jacep.2015.08.004 29759408 · DOI
  69. [73]Xu Z. Zhu W. Wang C. Huang L. Zhou Q. Hu J. Cheng X. Hong K. Genotype-Phenotype Relationship in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Desmosomal Gene Mutations: A Systematic Review and Meta-Analysis Sci. Rep. 2017 7 srep41387 10.1038/srep41387 28120905 PMC5264593 · DOI
  70. [74]Marian A.J. Asatryan B. Wehrens X.H.T. Genetic Basis and Molecular Biology of Cardiac Arrhythmias in Cardiomyopathies Cardiovasc. Res. 2020 116 1600 1619 10.1093/cvr/cvaa116 32348453 PMC7341170 · DOI
  71. [75]Asimaki A. Tandri H. Huang H. Halushka M.K. Gautam S. Basso C. Thiene G. Tsatsopoulou A. Protonotarios N. McKenna W.J. A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy N. Engl. J. Med. 2009 360 1075 1084 10.1056/NEJMoa0808138 19279339 · DOI · Paper page
  72. [76]Mallat Z. Tedgui A. Fontaliran F. Frank R. Durigon M. Fontaine G. Evidence of Apoptosis in Arrhythmogenic Right Ventricular Dysplasia N. Engl. J. Med. 1996 335 1190 1197 10.1056/NEJM199610173351604 8815941 · DOI
  73. [77]Rook M.B. Evers M.M. Vos M.A. Bierhuizen M.F.A. Biology of Cardiac Sodium Channel Nav1.5 Expression Cardiovasc. Res. 2012 93 12 23 10.1093/cvr/cvr252 21937582 · DOI
  74. [78]Burke B. Stewart C.L. The Nuclear Lamins: Flexibility in Function Nat. Rev. Mol. Cell Biol. 2013 14 13 24 10.1038/nrm3488 23212477 · DOI
  75. [79]Peretto G. Sala S. Benedetti S. di Resta C. Gigli L. Ferrari M. Bella P.D. Updated Clinical Overview on Cardiac Laminopathies: An Electrical and Mechanical Disease Nucleus 2018 9 380 391 10.1080/19491034.2018.1489195 29929425 PMC7000139 · DOI
  76. [80]Taylor M.R.G. Slavov D. Gajewski A. Vlcek S. Ku L. Fain P.R. Carniel E. di Lenarda A. Sinagra G. Boucek M.M. Thymopoietin (Lamina-Associated Polypeptide 2) Gene Mutation Associated with Dilated Cardiomyopathy Hum. Mutat. 2005 26 566 574 10.1002/humu.20250 16247757 · DOI
  77. [81]Sen-Chowdhry S. Syrris P. McKenna W.J. Genetics of Right Ventricular Cardiomyopathy J. Cardiovasc. Electrophysiol. 2005 16 927 935 10.1111/j.1540-8167.2005.40842.x 16101641 · DOI
  78. [82]Savvatis K. Müller I. Fröhlich M. Pappritz K. Zietsch C. Hamdani N. Grote K. Schieffer B. Klingel K. van Linthout S. Interleukin-6 Receptor Inhibition Modulates the Immune Reaction and Restores Titin Phosphorylation in Experimental Myocarditis Basic Res. Cardiol. 2014 109 449 10.1007/s00395-014-0449-2 25344085 · DOI
  79. [83]Beraldi R. Li X. Fernandez A.M. Reyes S. Secreto F. Terzic A. Olson T.M. Nelson T.J. Rbm20-Deficient Cardiogenesis Reveals Early Disruption of RNA Processing and Sarcomere Remodeling Establishing a Developmental Etiology for Dilated Cardiomyopathy Hum. Mol. Genet. 2014 23 3779 3791 10.1093/hmg/ddu091 24584570 PMC4065152 · DOI
  80. [84]Ouisse L.H. Remy S. Lafoux A. Larcher T. Tesson L. Chenouard V. Guillonneau C. Brusselle L. Vimond N. Rouger K. Immunophenotype of a Rat Model of Duchenne’s Disease and Demonstration of Improved Muscle Strength After Anti-CD45RC Antibody Treatment Front. Immunol. 2019 10 2131 10.3389/fimmu.2019.02131 31552055 PMC6746111 · DOI
  81. [85]Szabó P.L. Ebner J. Koenig X. Hamza O. Watzinger S. Trojanek S. Abraham D. Todt H. Kubista H. Schicker K. Cardiovascular Phenotype of the Dmdmdx Rat—A Suitable Animal Model for Duchenne Muscular Dystrophy Dis. Model. Mech. 2021 14 dmm047704 10.1242/dmm.047704 33619211 PMC7927653 · DOI
  82. [86]Vakrou S. Liu Y. Zhu L. Greenland G.V. Simsek B. Hebl V.B. Guan Y. Woldemichael K. Talbot C.C. Aon M.A. Differences in Molecular Phenotype in Mouse and Human Hypertrophic Cardiomyopathy Sci. Rep. 2021 11 13163 10.1038/s41598-021-89451-6 34162896 PMC8222321 · DOI
  83. [87]Gerbino A. Forleo C. Milano S. Piccapane F. Procino G. Pepe M. Piccolo M. Guida P. Resta N. Favale S. Pro-Inflammatory Cytokines as Emerging Molecular Determinants in Cardiolaminopathies J. Cell. Mol. Med. 2021 25 10902 10915 10.1111/jcmm.16975 34773379 PMC8642682 · DOI
  84. [88]Brayson D. Frustaci A. Verardo R. Chimenti C. Russo M.A. Hayward R. Ahmad S. Vizcay-Barrena G. Protti A. Zammit P.S. Prelamin A Mediates Myocardial Inflammation in Dilated and HIV-Associated Cardiomyopathies JCI Insight 2019 4 126315 10.1172/jci.insight.126315 31622279 PMC6948859 · DOI
  85. [89]Ikegami K. Stutzman A. Ikegami S. Almakki O. Liu S. Burnicka-turek O. Moskowitz I. Abstract MP230: Nuclear Rupture In A Mouse Model Of Lmna -Related Cardiomyopathy Causes Cytoplasmic Exposure Of The Proinflammatory Signaling Protein Hmgb1 Circ. Res. 2021 129 AMP230 10.1161/res.129.suppl_1.MP230 · DOI
  86. [91]Lynch T.L. Ismahil M.A. Jegga A.G. Zilliox M.J. Troidl C. Prabhu S.D. Sadayappan S. Cardiac Inflammation in Genetic Dilated Cardiomyopathy Caused by MYBPC3 Mutation J. Mol. Cell. Cardiol. 2017 102 83 93 10.1016/j.yjmcc.2016.12.002 27955979 PMC5316303 · DOI
  87. [92]Maier H.J. Schips T.G. Wietelmann A. Krüger M. Brunner C. Sauter M. Klingel K. Böttger T. Braun T. Wirth T. Cardiomyocyte-Specific IκB Kinase (IKK)/NF-ΚB Activation Induces Reversible Inflammatory Cardiomyopathy and Heart Failure Proc. Natl. Acad. Sci. USA 2012 109 11794 11799 10.1073/pnas.1116584109 22753500 PMC3406816 · DOI
  88. [93]van Opbergen C.J.M. Noorman M. Pfenniger A. Copier J.S. Vermij S.H. Li Z. van der Nagel R. Zhang M. de Bakker J.M.T. Glass A.M. Plakophilin-2 Haploinsufficiency Causes Calcium Handling Deficits and Modulates the Cardiac Response Towards Stress Int. J. Mol. Sci. 2019 20 4076 10.3390/ijms20174076 31438494 PMC6747156 · DOI
  89. [94]Pérez-Hernández M. Marrón-Liñares G.M. Schlamp F. Heguy A. van Opbergen C.J.M. Mezzano V. Zhang M. Liang F.X. Cerrone M. Delmar M. Transcriptomic Coupling of PKP2 With Inflammatory and Immune Pathways Endogenous to Adult Cardiac Myocytes Front. Physiol. 2021 11 623190 10.3389/fphys.2020.623190 33536940 PMC7849609 · DOI
  90. [96]Pilichou K. Remme C.A. Basso C. Campian M.E. Rizzo S. Barnett P. Scicluna B.P. Bauce B. van den Hoff M.J.B. de Bakker J.M.T. Myocyte Necrosis Underlies Progressive Myocardial Dystrophy in Mouse Dsg2-Related Arrhythmogenic Right Ventricular Cardiomyopathy J. Exp. Med. 2009 206 1787 1802 10.1084/jem.20090641 19635863 PMC2722163 · DOI · Paper page
  91. [97]Ng K.E. Delaney P.J. Thenet D. Murtough S. Webb C.M. Zaman N. Tsisanova E. Mastroianni G. Walker S.L.M. Westaby J.D. Early Inflammation Precedes Cardiac Fibrosis and Heart Failure in Desmoglein 2 Murine Model of Arrhythmogenic Cardiomyopathy Cell Tissue Res. 2021 386 79 98 10.1007/s00441-021-03488-7 34236518 PMC8526453 · DOI · Paper page
  92. [98]Lubos N. van der Gaag S. Gerçek M. Kant S. Leube R.E. Krusche C.A. Inflammation Shapes Pathogenesis of Murine Arrhythmogenic Cardiomyopathy Basic. Res. Cardiol. 2020 115 42 10.1007/s00395-020-0803-5 32529556 PMC7289786 · DOI · Paper page
  93. [99]Asimaki A. Protonotarios A. James C.A. Chelko S.P. Tichnell C. Murray B. Tsatsopoulou A. Anastasakis A. te Riele A. Kléber A.G. Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells Circ. Arrhythm. Electrophysiol. 2016 9 e003688 10.1161/CIRCEP.115.003688 26850880 PMC4785796 · DOI
  94. [100]Asimaki A. Kapoor S. Plovie E. Arndt A.K. Adams E. Liu Z.Z. James C.A. Judge D.P. Calkins H. Churko J. Identification of a New Modulator of the Intercalated Disc in a Zebrafish Model of Arrhythmogenic Cardiomyopathy Sci. Transl. Med. 2014 6 240ra74 10.1126/scitranslmed.3008008 PMC4471875 24920660 · DOI · Paper page
  95. [102]Li D. Liu Y. Maruyama M. Zhu W. Chen H. Zhang W. Reuter S. Lin S.F. Haneline L.S. Field L.J. Restrictive Loss of Plakoglobin in Cardiomyocytes Leads to Arrhythmogenic Cardiomyopathy Hum. Mol. Genet. 2011 20 4582 4596 10.1093/hmg/ddr392 21880664 PMC3209829 · DOI
  96. [103]Lombardi R. da Graca Cabreira-Hansen M. Bell A. Fromm R.R. Willerson J.T. Marian A.J. Nuclear Plakoglobin Is Essential for Differentiation of Cardiac Progenitor Cells to Adipocytes in Arrhythmogenic Right Ventricular Cardiomyopathy Circ. Res. 2011 109 1342 1353 10.1161/CIRCRESAHA.111.255075 22021931 PMC3237769 · DOI
  97. [104]Brodehl A. Belke D.D. Garnett L. Martens K. Abdelfatah N. Rodriguez M. Diao C. Chen Y.X. Gordon P.M.K. Nygren A. Transgenic Mice Overexpressing Desmocollin-2 (DSC2) Develop Cardiomyopathy Associated with Myocardial Inflammation and Fibrotic Remodeling PLoS ONE 2017 12 e0174019 10.1371/journal.pone.0174019 28339476 PMC5365111 · DOI
  98. [105]Zheng G. Jiang C. Li Y. Yang D. Ma Y. Zhang B. Li X. Zhang P. Hu X. Zhao X. TMEM43-S358L Mutation Enhances NF-ΚB-TGFβ Signal Cascade in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Protein Cell 2019 10 104 119 10.1007/s13238-018-0563-2 29980933 PMC6340891 · DOI · Paper page
  99. [106]Shinomiya H. Kato H. Kuramoto Y. Watanabe N. Tsuruda T. Arimura T. Miyashita Y. Miyasaka Y. Mashimo T. Takuwa A. Aberrant Accumulation of TMEM43 Accompanied by Perturbed Transmural Gene Expression in Arrhythmogenic Cardiomyopathy FASEB J. 2021 35 e21994 10.1096/fj.202100800R 34674311 · DOI
  100. [107]Basso C. Fox P.R. Meurs K.M. Towbin J.A. Spier A.W. Calabrese F. Maron B.J. Thiene G. Arrhythmogenic Right Ventricular Cardiomyopathy Causing Sudden Cardiac Death in Boxer Dogs Circulation 2004 109 1180 1185 10.1161/01.CIR.0000118494.07530.65 14993138 · DOI
  101. [108]Pugliese M. la Maestra R. la Gamba G. Lanteri G. Passantino A. Arrhythmogenic Right Ventricular Cardiomyopathy in a Cat Atti Accad. Peloritana Pericolanti Cl. Sci. Med. Biol. 2021 109 1 6 10.6092/1828-6550/APMB.109.1.2021.CCS1 · DOI
  102. [109]Paulus W.J. Zile M.R. From Systemic Inflammation to Myocardial Fibrosis Circ. Res. 2021 128 1451 1467 10.1161/CIRCRESAHA.121.318159 33983831 PMC8351796 · DOI
  103. [110]Herman D.S. Lam L. Taylor M.R.G. Wang L. Teekakirikul P. Christodoulou D. Conner L. DePalma S.R. McDonough B. Sparks E. Truncations of Titin Causing Dilated Cardiomyopathy N. Engl. J. Med. 2012 366 619 628 10.1056/NEJMoa1110186 22335739 PMC3660031 · DOI · Paper page
  104. [111]Kötter S. Gout L. von Frieling-Salewsky M. Müller A.E. Helling S. Marcus K. dos Remedios C. Linke W.A. Krüger M. Differential Changes in Titin Domain Phosphorylation Increase Myofilament Stiffness in Failing Human Hearts Cardiovasc. Res. 2013 99 648 656 10.1093/cvr/cvt144 23764881 · DOI
  105. [112]Taylor M. Graw S. Sinagra G. Barnes C. Slavov D. Brun F. Pinamonti B. Salcedo E.E. Sauer W. Pyxaras S. Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy-Overlap Syndromes Circulation 2011 124 876 885 10.1161/CIRCULATIONAHA.110.005405 21810661 PMC3167235 · DOI
  106. [113]Mueller M. Zwinger L. Klaassen S. Poller W. Monserrat Iglesias L. Pablo Ochoa J. Klingel K. Landmesser U. Heidecker B. Severe Heart Failure in the Setting of Inflammatory Cardiomyopathy with Likely Pathogenic Titin Variant Int. J. Cardiol. Heart Vasc. 2022 39 100969 10.1016/j.ijcha.2022.100969 35198726 PMC8851269 · DOI
  107. [114]Henkens M.T.H.M. Stroeks S.L.V.M. Raafs A.G. Sikking M.A. Tromp J. Ouwerkerk W. Hazebroek M.R. Krapels I.P.C. Knackstedt C. van den Wijngaard A. Dynamic Ejection Fraction Trajectory in Patients With Dilated Cardiomyopathy With a Truncating Titin Variant Circ. Heart Fail. 2022 15 E009352 10.1161/CIRCHEARTFAILURE.121.009352 35543125 · DOI
  108. [115]Gorbea C. Makar K.A. Pauschinger M. Pratt G. Bersola J.L.F. Varela J. David R.M. Banks L. Huang C.H. Li H. A Role for Toll-like Receptor 3 Variants in Host Susceptibility to Enteroviral Myocarditis and Dilated Cardiomyopathy J. Biol. Chem. 2010 285 23208 23223 10.1074/jbc.M109.047464 20472559 PMC2906314 · DOI
  109. [116]Ono R. Iwai Y. Yamazaki T. Takahashi H. Hori Y. Fukushima K. Saotome T. Nivolumab-Induced Myositis and Myocarditis with Positive Anti-Titin Antibody and Anti-Voltage-Gated Potassium Channel Kv1.4 Antibody Intern. Med. 2022 61 2973 2979 10.2169/internalmedicine.8772-21 35314545 PMC9593150 · DOI
  110. [117]Wang Z. Wang C. Lin S. Yu X. Effect of TTN Mutations on Immune Microenvironment and Efficacy of Immunotherapy in Lung Adenocarcinoma Patients Front. Oncol. 2021 11 725292 10.3389/fonc.2021.725292 34513703 PMC8426356 · DOI
  111. [118]Gil-Cruz C. Perez-Shibayama C. de Martin A. Ronchi F. van der Borght K. Niederer R. Onder L. Lütge M. Novkovic M. Nindl V. Microbiota-Derived Peptide Mimics Drive Lethal Inflammatory Cardiomyopathy Science 2019 366 881 886 10.1126/science.aav3487 31727837 · DOI · Paper page
  112. [119]Frustaci A. Russo M.A. Chimenti C. Randomized Study on the Efficacy of Immunosuppressive Therapy in Patients with Virus-Negative Inflammatory Cardiomyopathy: The TIMIC Study Eur. Heart J. 2009 30 1995 2002 10.1093/eurheartj/ehp249 19556262 · DOI · Paper page
  113. [120]de Luca G. Campochiaro C. Sartorelli S. Peretto G. Dagna L. Therapeutic Strategies for Virus-Negative Myocarditis: A Comprehensive Review Eur. J. Intern. Med. 2020 77 9 17 10.1016/j.ejim.2020.04.050 32402564 · DOI
  114. [122]Asatryan B. Asimaki A. Landstrom A.P. Khanji M.Y. Odening K.E. Cooper L.T. Marchlinski F.E. Gelzer A.R. Semsarian C. Reichlin T. Inflammation and Immune Response in Arrhythmogenic Cardiomyopathy: State-of-the-Art Review Circulation 2021 144 1646 1655 10.1161/CIRCULATIONAHA.121.055890 34780255 PMC9034711 · DOI
  115. [123]Asimaki A. Tandri H. Duffy E.R. Winterfield J.R. MacKey-Bojack S. Picken M.M. Cooper L.T. Wilber D.J. Marcus F.I. Basso C. Altered Desmosomal Proteins in Granulomatous Myocarditis and Potential Pathogenic Links to Arrhythmogenic Right Ventricular Cardiomyopathy Circ. Arrhythm. Electrophysiol. 2011 4 743 752 10.1161/CIRCEP.111.964890 21859801 PMC3203520 · DOI · Paper page
  116. [124]Beffagna G. Occhi G. Nava A. Vitiello L. Ditadi A. Basso C. Bauce B. Carraro G. Thiene G. Towbin J.A. Regulatory Mutations in Transforming Growth Factor-Beta3 Gene Cause Arrhythmogenic Right Ventricular Cardiomyopathy Type 1 Cardiovasc. Res. 2005 65 366 373 10.1016/j.cardiores.2004.10.005 15639475 · DOI
  117. [125]Błyszczuk P. Myocarditis in Humans and in Experimental Animal Models Front. Cardiovasc. Med. 2019 6 64 10.3389/fcvm.2019.00064 31157241 PMC6532015 · DOI · Paper page
  118. [126]Haghighi K. Kolokathis F. Gramolini A.O. Waggoner J.R. Pater L. Lynch R.A. Fan G.C. Tsiapras D. Parekh R.R. Dorn G.W. A Mutation in the Human Phospholamban Gene, Deleting Arginine 14, Results in Lethal, Hereditary Cardiomyopathy Proc. Natl. Acad. Sci. USA 2006 103 1388 1393 10.1073/pnas.0510519103 16432188 PMC1360586 · DOI
  119. [127]Rusciano M.R. Sommariva E. Douin-Echinard V. Ciccarelli M. Poggio P. Maione A.S. CaMKII Activity in the Inflammatory Response of Cardiac Diseases Int. J. Mol. Sci. 2019 20 4374 10.3390/ijms20184374 31489895 PMC6770001 · DOI
  120. [128]Chen S.N. Sbaizero O. Taylor M.R.G. Mestroni L. Lamin A/C Cardiomyopathy: Implications for Treatment Curr. Cardiol. Rep. 2019 21 160 10.1007/s11886-019-1224-7 31773301 · DOI
  121. [129]Bonello-Palot N. Simoncini S. Robert S. Bourgeois P. Sabatier F. Levy N. Dignat-George F. Badens C. Prelamin A Accumulation in Endothelial Cells Induces Premature Senescence and Functional Impairment Atherosclerosis 2014 237 45 52 10.1016/j.atherosclerosis.2014.08.036 25200614 · DOI
  122. [130]Tchkonia T. Zhu Y. van Deursen J. Campisi J. Kirkland J.L. Cellular Senescence and the Senescent Secretory Phenotype: Therapeutic Opportunities J. Clin. Investig. 2013 123 966 972 10.1172/JCI64098 23454759 PMC3582125 · DOI · Paper page
  123. [131]Bowles N.E. Ni J. Marcus F. Towbin J.A. The Detection of Cardiotropic Viruses in the Myocardium of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy J. Am. Coll. Cardiol. 2002 39 892 895 10.1016/S0735-1097(02)01688-1 11869858 · DOI
  124. [132]Wang H.Q. Meng X. Liu B.Q. Li C. Gao Y.Y. Niu X.F. Li N. Guan Y. Du Z.X. Involvement of JNK and NF-ΚB Pathways in Lipopolysaccharide (LPS)-Induced BAG3 Expression in Human Monocytic Cells Exp. Cell Res. 2012 318 16 24 10.1016/j.yexcr.2011.10.005 22020323 · DOI
  125. [133]Bruno A.P. de Simone F.I. Iorio V. de Marco M. Khalili K. Sariyer I.K. Capunzo M. Nori S.L. Rosati A. HIV-1 Tat Protein Induces Glial Cell Autophagy through Enhancement of BAG3 Protein Levels Cell Cycle 2014 13 3640 3644 10.4161/15384101.2014.952959 25483098 PMC4614156 · DOI
  126. [135]Rampazzo A. Beffagna G. Nava A. Occhi G. Bauce B. Noiato M. Basso C. Frigo G. Thiene G. Towbin J. Arrhythmogenic Right Ventricular Cardiomyopathy Type 1 (ARVD1): Confirmation of Locus Assignment and Mutation Screening of Four Candidate Genes Eur. J. Hum. Genet. 2003 11 69 76 10.1038/sj.ejhg.5200914 12529708 · DOI
  127. [136]Dubash A.D. Kam C.Y. Aguado B.A. Patel D.M. Delmar M. Shea L.D. Green K.J. Plakophilin-2 Loss Promotes TGF-Β1/P38 MAPK-Dependent Fibrotic Gene Expression in Cardiomyocytes J. Cell Biol. 2016 212 425 438 10.1083/jcb.201507018 26858265 PMC4754716 · DOI
  128. [137]Kant S. Holthöfer B. Magin T.M. Krusche C.A. Leube R.E. Desmoglein 2-Dependent Arrhythmogenic Cardiomyopathy Is Caused by a Loss of Adhesive Function Circ. Cardiovasc. Genet. 2015 8 553 563 10.1161/CIRCGENETICS.114.000974 26085008 · DOI
  129. [138]Rimpler U. Funktionelle Charakterisierung von Desmocollin 2 Während Der Embryonalentwicklung Und Im Adulten Herzen in Der Maus (Functional Characterization of Desmocollin-2 during the Embryonic Development and in the Adult Murine Heart) Ph.D. Thesis Humboldt-Universität Berlin, Germany 2014 10.18452/16878 · DOI
  130. [139]Beattie J. Allan G.J. Lochrie J.D. Flint D.J. Insulin-like Growth Factor-Binding Protein-5 (IGFBP-5): A Critical Member of the IGF Axis Biochem. J. 2006 395 1 19 10.1042/BJ20060086 16526944 PMC1409685 · DOI
  131. [140]Garcia-Gras E. Lombardi R. Giocondo M.J. Willerson J.T. Schneider M.D. Khoury D.S. Marian A.J. Suppression of Canonical Wnt/β-Catenin Signaling by Nuclear Plakoglobin Recapitulates Phenotype of Arrhythmogenic Right Ventricular Cardiomyopathy J. Clin. Investig. 2006 116 2012 2021 10.1172/JCI27751 16823493 PMC1483165 · DOI · Paper page
  132. [141]Padrón-Barthe L. Villalba-Orero M. Gómez-Salinero J.M. Domínguez F. Román M. Larrasa-Alonso J. Ortiz-Sánchez P. Martínez F. López-Olañeta M. Bonzón-Kulichenko E. Severe Cardiac Dysfunction and Death Caused by Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Are Improved by Inhibition of Glycogen Synthase Kinase-3β Circulation 2019 140 1188 1204 10.1161/CIRCULATIONAHA.119.040366 31567019 PMC6784777 · DOI
  133. [142]Meurs K.M. Mauceli E. Lahmers S. Acland G.M. White S.N. Lindblad-Toh K. Genome-Wide Association Identifies a Deletion in the 3 Untranslated Region of Striatin in a Canine Model of Arrhythmogenic Right Ventricular Cardiomyopathy Hum. Genet. 2010 128 315 324 10.1007/s00439-010-0855-y 20596727 PMC2962869 · DOI
  134. [143]Cattanach B.M. Dukes-McEwan J. Wotton P.R. Stephenson H.M. Hamilton R.M. A Pedigree-Based Genetic Appraisal of Boxer ARVC and the Role of the Striatin Mutation Vet. Rec. 2015 176 492 10.1136/vr.102821 25661582 PMC4433500 · DOI
  135. [144]Peretto G. De Luca G. Villatore A. Di Resta C. Sala S. Palmisano A. Vignale D. Campochiaro C. Lazzeroni D. De Gaspari M. Multimodal detection and targeting of biopsy-proven myocardial inflammation in genetic cardiomyopathies: A pilot report JACC Basic Transl. Sci. 2023 ahead of print PMC10401291 37547072
  136. [145]Reina-Couto M. Pereira-Terra P. Quelhas-Santos J. Silva-Pereira C. Albino-Teixeira A. Sousa T. Inflammation in Human Heart Failure: Major Mediators and Therapeutic Targets Front. Physiol. 2021 12 746494 10.3389/fphys.2021.746494 34707513 PMC8543018 · DOI
  137. [146]Raimondi F. Iserin F. Raisky O. Laux D. Bajolle F. Boudjemline Y. Boddaert N. Bonnet D. Myocardial inflammation on cardiovascular magnetic resonance predicts left ventricular function recovery in children with recent dilated cardiomyopathy Eur. Heart J. Cardiovasc. Imaging 2015 16 756 762 10.1093/ehjci/jev002 25711351 · DOI
  138. [147]Peretto G. Mazzone P. Paglino G. Marzi A. Tsitsinakis G. Rizzo S. Basso C. Della Bella P. Sala S. Continuous Electrical Monitoring in Patients with Arrhythmic Myocarditis: Insights from a Referral Center J. Clin. Med. 2021 10 5142 10.3390/jcm10215142 34768662 PMC8584651 · DOI
  139. [148]Peretto G. Barzaghi F. Cicalese M.P. Di Resta C. Slavich M. Benedetti S. Giangiobbe S. Rizzo S. Palmisano A. Esposito A. Immunosuppressive therapy in childhood-onset arrhythmogenic inflammatory cardiomyopathy Pacing Clin. Electrophysiol. 2021 44 552 556 10.1111/pace.14153 33372694 · DOI
  140. [149]Kontorovich A.R. Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians JACC Heart Fail. 2023 11 133 142 10.1016/j.jchf.2022.11.025 36754525 PMC10191168 · DOI
  141. [150]Lota A.S. Hazebroek M.R. Theotokis P. Wassall R. Salmi S. Halliday B.P. Tayal U. Verdonschot J. Meena D. Owen R. Genetic Architecture of Acute Myocarditis and the Overlap with Inherited Cardiomyopathy Circulation 2022 146 1123 1134 10.1161/CIRCULATIONAHA.121.058457 36154167 PMC9555763 · DOI · Paper page

Cited by

Sorted by citations

Authors
Peretto, G., Sommariva, E., Di Resta, C., Rabino, M., Villatore, A., Lazzeroni, D., Sala, S., Pompilio, G., & Cooper, L. T.
Affiliations
  • Vita-Salute San Raffaele University (IT)
  • Centro Cardiologico Monzino (IT)
  • School of Medicine, Vita-Salute San Raffaele University, 20132 Milan, Italy
  • IRCCS Ospedale San Raffaele (IT)
  • Don Carlo Gnocchi Foundation (IT)
  • University of Milan (IT)
  • Mayo Clinic (US)
Corresponding author
Peretto, Giovanni
Venue
Biomolecules
Publisher
MDPI AG
Published
2023-04-04
Volume
13
Issue
4
Pages
646
ISSN
2218-273X (ISSN-L)
OpenAlex
W4362557569
Cited by
37
References
9
Citations by year
2026: 12 · 2025: 9 · 2024: 9 · 2023: 7
FWCI
1.95
Type
journal article
Language
en
Open access
Locations
  • Biomolecules (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion, cc-by)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Viral Infections and Immunology Research
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
Keywords
myocarditis, familial cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, druggable targets, sudden cardiac death, heart failure
MeSH terms
Arrhythmias, Cardiac, Heart Failure, Humans, Inflammation, Cardiomyopathies, Myocarditis

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review