Dilated cardiomyopathy: A disease of the myocardium

Biological and Pharmaceutical Bulletin

Volumn 36, Issue 1, 2013, Pages 18-22

  Sanbe, Atsushi ^a  

^a IWATE MEDICAL UNIVERSITY   (Japan)

Author keywords

Cardiomyopathy; Contractile protein; Structural protein

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; CAVEOLIN 3; DELTA SARCOGLYCAN; DESMIN; DYSTROBREVIN; DYSTROPHIN; FUKUTIN; FUKUTIN RELATED PROTEIN; GAMMA SARCOGLYCAN; LAMIN A; LAMIN C; LIM PROTEIN; MYOSIN HEAVY CHAIN BETA; PHOSPHOLAMBAN; SODIUM CHANNEL NAV1.5; TROPONIN C; TROPONIN T;

CELL NUCLEUS MEMBRANE; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; EXTRACELLULAR MATRIX; GENE MUTATION; HEART ARRHYTHMIA; HEART TRANSPLANTATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MYH7 GENE; PENETRANCE; REVIEW; SARCOMERE; SARCOPLASMIC RETICULUM; SUDDEN DEATH; VENTRICULAR NONCOMPACTION;

CALCIUM-BINDING PROTEINS; CARDIOMYOPATHY, DILATED; CARRIER PROTEINS; CYTOSKELETAL PROTEINS; HUMANS; MYOCARDIUM; NUCLEAR PROTEINS;

EID: 84872693470     PISSN: 09186158     EISSN: 13475215     Source Type: Journal    
DOI: 10.1248/bpb.b212023     Document Type: Review

References (66)

1. Sack MN, Murphy E. The role of comorbidities in cardioprotection. J. Cardiovasc. Pharmacol. Ther., 16, 267-272 (2011).
2. The Task Force on the Definition and Classification of Cardiomyopathies. Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. Br. Heart J., 44, 672-673 (1980).
3. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O'Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation, 93, 841-842 (1996).
4. Friedrich FW, Carrier L. Genetics of hypertrophic and dilated cardiomyopathy. Curr. Pharm. Biotechnol., Jan. 20 (2012), Epub ahead of print.
5. Lobrinus JA, Janzer RC, Kuntzer T, Matthieu JM, Pfend G, Goy JJ, Bogousslavsky J. Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration. Neuromuscul. Disord., 8, 77-86 (1998).
6. Ashrafian H, McKenna WJ, Watkins H. Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy. Circ. Res., 109, 86-96 (2011).
7. Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation, 122, 2430-2440, discussion, 2440 (2010).
8. Landstrom AP, Ackerman MJ. Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation, 122, 2441-2449, discussion, 2450 (2010).
9. Saffitz JE. Arrhythmogenic cardiomyopathy: advances in diagnosis and disease pathogenesis. Circulation, 124, e390-e392 (2011).
10. Chien KR. Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies. J. Clin. Invest., 111, 175-178 (2003).
11. Towbin JA, Lowe AM, Colan SD, Sleeper LA, Orav EJ, Clunie S, Messere J, Cox GF, Lurie PR, Hsu D, Canter C, Wilkinson JD, Lipshultz SE. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA, 296, 1867-1876 (2006).
12. Towbin JA. Pediatric myocardial disease. Pediatr. Clin. North Am., 46, 289-312, ix (1999).
13. Shaddy RE. Cardiomyopathies in adolescents: dilated, hypertrophic, and restrictive. Adolesc. Med., 12, 35-45 (2001).
14. Towbin JA, Bowles NE. The failing heart. Nature, 415, 227-233 (2002).
15. Dellefave L, McNally EM. The genetics of dilated cardiomyopathy. Curr. Opin. Cardiol., 25, 198-204 (2010).
16. Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N. Engl. J. Med., 343, 1688-1696 (2000).
17. Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur. Heart J., 26, 794-803 (2005).
18. Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J. Am. Coll. Cardiol., 44, 2033-2040 (2004).
19. Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol., 57, 1641-1649 (2011).
20. Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ. Res., 105, 375-382 (2009).
21. Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet, 363, 371-372 (2004).
22. Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J. Am. Coll. Cardiol., 55, 320-329 (2010).
23. Lakdawala NK, Givertz MM. Dilated cardiomyopathy with conduction disease and arrhythmia. Circulation, 122, 527-534 (2010).
24. Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J. Mol. Cell. Cardiol., 33, 723-732 (2001).
25. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science, 280, 750-752 (1998).
26. Morita H, Seidman J, Seidman CE. Genetic causes of human heart failure. J. Clin. Invest., 115, 518-526 (2005).
27. Du CK, Morimoto S, Nishii K, Minakami R, Ohta M, Tadano N, Lu QW, Wang YY, Zhan DY, Mochizuki M, Kita S, Miwa Y, Takahashi-Yanaga F, Iwamoto T, Ohtsuki I, Sasaguri T. Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation. Circ. Res., 101, 185-194 (2007).
28. 2+- desensitizing effect of a deletion mutation ÄK210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc. Natl. Acad. Sci. U.S.A., 99, 913-918 (2002).
29. Waldmüller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, Timmermann B, Haremza J, Perrot A, Scheer S, Wachter R, Schulze-Waltrup N, Dermintzoglou A, Schönberger J, Zeh W, Jurmann B, Brodherr T, Börgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, Özcelik C, Osterziel KJ, Loeffler M, Maisch B, Regitz-Zagrosek V, Schunkert H, Scheffold T, German Competence Network Heart Failure. Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. Eur. J. Heart Fail., 13, 1185-1192 (2011).
30. Tanjore R, Rangaraju A, Vadapalli S, Remersu S, Narsimhan C, Nallari P. Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy. Indian J. Hum. Genet., 16, 67-71 (2010).
31. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation, 117, 2893-2901 (2008).
32. Peters F, Khandheria BK, dos Santos C, Matioda H, Maharaj N, Libhaber E, Mamdoo F, Essop MR. Isolated left ventricular non-compaction in sub-Saharan Africa: a clinical and echocardiographic perspective. Circ. Cardiovasc. Imaging, 5, 187-193 (2012).
33. Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ. Cardiovasc. Genet., 2, 442-449 (2009).
34. Li D, Tapscoft T, Gonzalez O, Burch PE, Quiñones MA, Zoghbi WA, Hill R, Bachinski LL, Mann DL, Roberts R. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation, 100, 461-464 (1999).
35. Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat. Genet., 19, 402-403 (1998).
36. Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernández-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc. Natl. Acad. Sci. U.S.A., 95, 11312-11317 (1998).
37. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J. Am. Coll. Cardiol., 42, 2014-2027 (2003).
38. Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann. Neurol., 57, 269-276 (2005).
39. Knöll R, Buyandelger B, Lab M. The sarcomeric Z-disc and Z-discopathies. J. Biomed. Biotechnol., 2011, 569628 (2011).
40. Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell, 111, 943-955 (2002).
41. Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P, Nauman D, Burgess D, Partain J, Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin. Transl. Sci., 1, 21-26 (2008).
42. Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol. Genet. Metab., 80, 207-215 (2003).
43. Labeit S, Kolmerer B. Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science, 270, 293-296 (1995).
44. Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Koyanagi T, Takahashi M, Hohda S, Ueda K, Nouchi T, Hiroe M, Marumo F, Imaizumi T, Yasunami M, Kimura A. Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun., 291, 385-393 (2002).
45. LeWinter MM, Wu Y, Labeit S, Granzier H. Cardiac titin: structure, functions and role in disease. Clin. Chim. Acta, 375, 1-9 (2007).
46. Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás 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., 30, 201-204 (2002).
47. Petrof BJ. Molecular pathophysiology of myofiber injury in deficiencies of the dystrophin-glycoprotein complex. Am. J. Phys. Med. Rehabil., 81, S162-S174 (2002).
48. Monaco AP. Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene. Trends Biochem. Sci., 14, 412-415 (1989).
49. Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am. J. Hum. Genet., 56, 151-157 (1995).
50. Minetti C, Bonilla E. Mosaic expression of dystrophin in carriers of Becker's muscular dystrophy and the X-linked syndrome of myalgia and cramps. N. Engl. J. Med., 327, 1100 (1992).
51. Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest., 106, 655-662 (2000).
52. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature, 394, 388-392 (1998).
53. Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum. Mol. Genet., 8, 2303-2309 (1999).
54. Esapa CT, Benson MA, Schröder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kröger S, Blake DJ. Functional requirements for fukutin-related protein in the Golgi apparatus. Hum. Mol. Genet., 11, 3319-3331 (2002).
55. Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann. Neurol., 53, 537-542 (2003).
56. Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch. Neurol., 62, 1894-1899 (2005).
57. Worman HJ. Nuclear lamins and laminopathies. J. Pathol., 226, 316-325 (2012).
58. Dittmer TA, Misteli T. The lamin protein family. Genome Biol., 12, 222 (2011).
59. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N. Engl. J. Med., 341, 1715-1724 (1999).
60. Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet., 21, 285-288 (1999).
61. van Berlo JH, de Voogt WG, van der Kooi AJ, van Tintelen JP, Bonne G, Yaou RB, Duboc D, Rossenbacker T, Heidbüchel H, de Visser M, Crijns HJ, Pinto YM. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J. Mol. Med., 83, 79-83 (2005).
62. Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, Mannarino S, Gambarin F, Favalli V, Grasso M, Agozzino M, Campana C, Gavazzi A, Febo O, Marini M, Landolina M, Mortara A, Piccolo G, Viganò M, Tavazzi L, Arbustini E. Long-term outcome and risk stratification in dilated cardiolaminopathies. J. Am. Coll. Cardiol., 52, 1250-1260 (2008).
63. Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U, Kranias EG, MacLennan DH, Seidman JG, Seidman CE. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science, 299, 1410-1413 (2003).
64. Haghighi K, Kolokathis F, Gramolini AO, Waggoner JR, Pater L, Lynch RA, Fan GC, Tsiapras D, Parekh RR, Dorn GW 2nd, MacLennan DH, Kremastinos DT, Kranias EG. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl. Acad. Sci. U.S.A., 103, 1388-1393 (2006).
65. Wang DW, Viswanathan PC, Balser JR, George AL Jr, Benson DW. Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation, 105, 341-346 (2002).
66. Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ, Anderson JL. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA, 293, 447-454 (2005).