KEGG   DISEASE: Dilated cardiomyopathy
Entry
H00294                      Disease                                
Name
Dilated cardiomyopathy
  Subgroup
Barth syndrome (BTHS) [DS:H00654]
  Supergrp
Dystrophinopathies [DS:H00562]
Description
Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H00294  Dilated cardiomyopathy
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H00294  Dilated cardiomyopathy
Disease
pathway
hsa05414  Dilated cardiomyopathy
Pathway
hsa04020  Calcium signaling pathway
Network
nt06528 Calcium signaling
Gene
(CMD1A) LMNA [HSA:4000] [KO:K12641]
(CMD1C) LDB3 [HSA:11155] [KO:K19867]
(CMD1D) TNNT2 [HSA:7139] [KO:K12045]
(CMD1E) SCN5A [HSA:6331] [KO:K04838]
(CMD1G) TTN [HSA:7273] [KO:K12567]
(CMD1I) DES [HSA:1674] [KO:K07610]
(CMD1J) EYA4 [HSA:2070] [KO:K17622]
(CMD1L) SGCD [HSA:6444] [KO:K12563]
(CMD1M) CSRP3 [HSA:8048] [KO:K09377]
(CMD1N) TCAP [HSA:8557] [KO:K19879]
(CMD1O) ABCC9 [HSA:10060] [KO:K05033]
(CMD1P) PLN [HSA:5350] [KO:K05852]
(CMD1R) ACTC1 [HSA:70] [KO:K12314]
(CMD1S) MYH7 [HSA:4625] [KO:K17751]
(CMD1U) PSEN1 [HSA:5663] [KO:K04505]
(CMD1V) PSEN2 [HSA:5664] [KO:K04522]
(CMD1W) VCL [HSA:7414] [KO:K05700]
(CMD1X) FKTN [HSA:2218] [KO:K19872]
(CMD1Y) TPM1 [HSA:7168] [KO:K10373]
(CMD1Z) TNNC1 [HSA:7134] [KO:K05865]
(CMD1AA) ACTN2 [HSA:88] [KO:K21073]
(CMD1BB) DSG2 [HSA:1829] [KO:K07597]
(CMD1CC) NEXN [HSA:91624] [KO:K23918]
(CMD1DD) RBM20 [HSA:282996] [KO:K24052]
(CMD1EE) MYH6 [HSA:4624] [KO:K17751]
(CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044]
(CMD1GG) SDHA [HSA:6389] [KO:K00234]
(CMD1HH) BAG3 [HSA:9531] [KO:K09557]
(CMD1II) CRYAB [HSA:1410] [KO:K09542]
(CMD1JJ) LAMA4 [HSA:3910] [KO:K06241]
(CMD1KK) MYPN [HSA:84665] [KO:K22028]
(CMD1LL) PRDM16 [HSA:63976] [KO:K22410]
(CMD1MM) MYBPC3 [HSA:4607] [KO:K12568]
(CMD1NN) RAF1 [HSA:5894] [KO:K04366]
(CMD1OO) VEZF1 [HSA:7716] [KO:K26610]
(CMD2B) GATAD1 [HSA:57798] [KO:K23407]
(CMD2C) PPCS [HSA:79717] [KO:K01922]
(CMD2D) RPL3L [HSA:6123] [KO:K02925]
(CMD2E) JPH2 [HSA:57158] [KO:K19530]
(CMD2F) BAG5 [HSA:9529] [KO:K09559]
(CMD2G) LMOD2 [HSA:442721] [KO:K22030]
(CMD2H) GET3 [HSA:439] [KO:K01551]
(CMD2I) CAP2 [HSA:10486] [KO:K17261]
(CMD2J) FLII [HSA:2314]
(CMD3B) DMD [HSA:1756] [KO:K10366]
(BTHS) TAZ [HSA:6901] [KO:K13511]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DPA1 [HSA:3113] [KO:K06752]
HLA-DPB1 [HSA:3115] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
Other DBs
ICD-11: BC43.0
ICD-10: I42
OMIM: 115200 601493 601494 601154 604145 604765 605362 606685 607482 607487 608569 609909 613424 613426 613694 613697 611407 611615 611878 611879 612158 612877 613122 613172 613252 613286 613642 613881 615184 615235 615248 615373 615396 615916 620247 611880 614672 618189 619371 619492 619747 619897 620203 620462 620635 302045 302060
Reference
  Authors
Fatkin D, Graham RM
  Title
Molecular mechanisms of inherited cardiomyopathies.
  Journal
Physiol Rev 82:945-80 (2002)
DOI:10.1152/physrev.00012.2002
Reference
  Authors
Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
  Title
Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
  Journal
Cardiovasc J S Afr 14:145-55 (2003)
Reference
  Authors
Hershberger RE, Morales A, Siegfried JD
  Title
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.
  Journal
Genet Med 12:655-67 (2010)
DOI:10.1097/GIM.0b013e3181f2481f
Reference
PMID:10580070 (CMD1A)
  Authors
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, Muehle G, Johnson W, McDonough B
  Title
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
  Journal
N Engl J Med 341:1715-24 (1999)
DOI:10.1056/NEJM199912023412302
Reference
PMID:14662268 (CMD1C)
  Authors
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
  Title
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
  Journal
J Am Coll Cardiol 42:2014-27 (2003)
DOI:10.1016/j.jacc.2003.10.021
Reference
PMID:11106718 (CMD1D CMD1S)
  Authors
Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE
  Title
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
  Journal
N Engl J Med 343:1688-96 (2000)
DOI:10.1056/NEJM200012073432304
Reference
PMID:15466643 (CMD1E)
  Authors
McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L
  Title
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
  Journal
Circulation 110:2163-7 (2004)
DOI:10.1161/01.CIR.0000144458.58660.BB
Reference
PMID:11788824 (CMD1G)
  Authors
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
  Title
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
  Journal
Nat Genet 30:201-4 (2002)
DOI:10.1038/ng815
Reference
PMID:10430757 (CMD1I)
  Authors
Li D, Tapscoft T, Gonzalez O, Burch PE, Quinones MA, Zoghbi WA, Hill R, Bachinski LL, Mann DL, Roberts R
  Title
Desmin mutation responsible for idiopathic dilated cardiomyopathy.
  Journal
Circulation 100:461-4 (1999)
DOI:10.1161/01.cir.100.5.461
Reference
PMID:15735644 (CMD1J)
  Authors
Schonberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H, Zon L, Pizard A, Kim JB, Macrae CA, Mungall AJ, Seidman JG, Seidman CE
  Title
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.
  Journal
Nat Genet 37:418-22 (2005)
DOI:10.1038/ng1527
Reference
PMID:10974018 (CMD1L)
  Authors
Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA
  Title
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
  Journal
J Clin Invest 106:655-62 (2000)
DOI:10.1172/JCI9224
Reference
PMID:14567970 (CMD1M CMD1AA)
  Authors
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
  Title
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
  Journal
Mol Genet Metab 80:207-15 (2003)
DOI:10.1016/s1096-7192(03)00142-2
Reference
PMID:15582318 (CMD1N)
  Authors
Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A
  Title
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
  Journal
J Am Coll Cardiol 44:2192-201 (2004)
DOI:10.1016/j.jacc.2004.08.058
Reference
PMID:15034580 (CMD1O)
  Authors
Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A
  Title
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
  Journal
Nat Genet 36:382-7 (2004)
DOI:10.1038/ng1329
Reference
PMID:12610310 (CMD1P)
  Authors
Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U, Kranias EG, MacLennan DH, Seidman JG, Seidman CE
  Title
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
  Journal
Science 299:1410-3 (2003)
DOI:10.1126/science.1081578
Reference
PMID:9563954 (CMD1R)
  Authors
Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT
  Title
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
  Journal
Science 280:750-2 (1998)
DOI:10.1126/science.280.5364.750
Reference
PMID:17186461 (CMD1U CMD1V)
  Authors
Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE
  Title
Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
  Journal
Am J Hum Genet 79:1030-9 (2006)
DOI:10.1086/509900
Reference
PMID:11815424 (CMD1W)
  Authors
Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM
  Title
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
  Journal
Circulation 105:431-7 (2002)
DOI:10.1161/hc0402.102930
Reference
PMID:17036286 (CMD1X)
  Authors
Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kotooka N, Campbell KP, Osawa M, Nishino I
  Title
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
  Journal
Ann Neurol 60:597-602 (2006)
DOI:10.1002/ana.20973
Reference
PMID:11273725 (CMD1Y)
  Authors
Olson TM, Kishimoto NY, Whitby FG, Michels VV
  Title
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.
  Journal
J Mol Cell Cardiol 33:723-32 (2001)
DOI:10.1006/jmcc.2000.1339
Reference
PMID:15542288 (CMD1Z)
  Authors
Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ
  Title
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
  Journal
J Am Coll Cardiol 44:2033-40 (2004)
DOI:10.1016/j.jacc.2004.08.027
Reference
PMID:18678517 (CMD1BB)
  Authors
Posch MG, Posch MJ, Geier C, Erdmann B, Mueller W, Richter A, Ruppert V, Pankuweit S, Maisch B, Perrot A, Buttgereit J, Dietz R, Haverkamp W, Ozcelik C
  Title
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
  Journal
Mol Genet Metab 95:74-80 (2008)
DOI:10.1016/j.ymgme.2008.06.005
Reference
PMID:19881492 (CMD1CC)
  Authors
Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M, Just S, Hess A, Ehlermann P, Weichenhan D, Grimmler M, Liptau H, Hetzer R, Regitz-Zagrosek V, Fischer C, Nurnberg P, Schunkert H, Katus HA, Rottbauer W
  Title
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
  Journal
Nat Med 15:1281-8 (2009)
DOI:10.1038/nm.2037
Reference
PMID:19712804 (CMD1DD)
  Authors
Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM
  Title
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.
  Journal
J Am Coll Cardiol 54:930-41 (2009)
DOI:10.1016/j.jacc.2009.05.038
Reference
PMID:15998695 (CMD1EE)
  Authors
Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L
  Title
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.
  Journal
Circulation 112:54-9 (2005)
DOI:10.1161/CIRCULATIONAHA.104.507699
Reference
PMID:19590045 (CMD1FF)
  Authors
Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H
  Title
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
  Journal
Circ Res 105:375-82 (2009)
DOI:10.1161/CIRCRESAHA.109.196055
Reference
PMID:20551992 (CMD1GG)
  Authors
Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R
  Title
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
  Journal
Eur J Hum Genet 18:1160-5 (2010)
DOI:10.1038/ejhg.2010.83
Reference
PMID:21353195 (CMD1HH)
  Authors
Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Zuchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE
  Title
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
  Journal
Am J Hum Genet 88:273-82 (2011)
DOI:10.1016/j.ajhg.2011.01.016
Reference
PMID:16483541 (CMD1II)
  Authors
Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A
  Title
Alpha B-crystallin mutation in dilated cardiomyopathy.
  Journal
Biochem Biophys Res Commun 342:379-86 (2006)
DOI:10.1016/j.bbrc.2006.01.154
Reference
PMID:17646580 (CMD1JJ)
  Authors
Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss HP, Schaper W, Schaper J, Bos E, Den Hertog J, van Eeden FJ, Peters PJ, Hasenfuss G, Chien KR, Bakkers J
  Title
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
  Journal
Circulation 116:515-25 (2007)
DOI:10.1161/CIRCULATIONAHA.107.689984
Reference
PMID:22892539 (CMD1KK)
  Authors
Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S
  Title
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
  Journal
Eur J Hum Genet 21:294-300 (2013)
DOI:10.1038/ejhg.2012.173
Reference
PMID:23768516 (CMD1LL)
  Authors
Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S
  Title
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
  Journal
Am J Hum Genet 93:67-77 (2013)
DOI:10.1016/j.ajhg.2013.05.015
Reference
PMID:12379228 (CMD1MM)
  Authors
Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V
  Title
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
  Journal
Biochem Biophys Res Commun 298:116-20 (2002)
DOI:10.1016/s0006-291x(02)02374-4
Reference
PMID:24777450 (CMD1NN)
  Authors
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD
  Title
RAF1 mutations in childhood-onset dilated cardiomyopathy.
  Journal
Nat Genet 46:635-639 (2014)
DOI:10.1038/ng.2963
Reference
PMID:36657711 (CMD1OO)
  Authors
Shi HY, Xie MS, Guo YH, Yang CX, Gu JN, Qiao Q, Di RM, Qiu XB, Xu YJ, Yang YQ
  Title
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.
  Journal
Eur J Med Genet 66:104705 (2023)
DOI:10.1016/j.ejmg.2023.104705
Reference
PMID:15070570 (CMD2A)
  Authors
Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ
  Title
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.
  Journal
Lancet 363:371-2 (2004)
DOI:10.1016/S0140-6736(04)15468-8
Reference
PMID:21965549 (CMD2B)
  Authors
Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM
  Title
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
  Journal
Circ Cardiovasc Genet 4:585-94 (2011)
DOI:10.1161/CIRCGENETICS.111.961052
Reference
PMID:29754768 (CMD2C)
  Authors
Iuso A, Wiersma M, Schuller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y
  Title
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
  Journal
Am J Hum Genet 102:1018-1030 (2018)
DOI:10.1016/j.ajhg.2018.03.022
Reference
PMID:32514796 (CMD2D)
  Authors
Ganapathi M, Argyriou L, Martinez-Azorin F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorli-Garcia M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B
  Title
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
  Journal
Hum Genet 139:1443-1454 (2020)
DOI:10.1007/s00439-020-02188-6
Reference
PMID:31227780 (CMD2E)
  Authors
Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP
  Title
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
  Journal
Sci Rep 9:9038 (2019)
DOI:10.1038/s41598-019-44987-6
Reference
PMID:35044787 (CMD2F)
  Authors
Hakui H, Kioka H, Miyashita Y, Nishimura S, Matsuoka K, Kato H, Tsukamoto O, Kuramoto Y, Takuwa A, Takahashi Y, Saito S, Ohta K, Asanuma H, Fu HY, Shinomiya H, Yamada N, Ohtani T, Sawa Y, Kitakaze M, Takashima S, Sakata Y, Asano Y
  Title
Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation.
  Journal
Sci Transl Med 14:eabf3274 (2022)
DOI:10.1126/scitranslmed.abf3274
Reference
PMID:31517052 (CMD2G)
  Authors
Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC
  Title
Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.
  Journal
Sci Adv 5:eaax2066 (2019)
DOI:10.1126/sciadv.aax2066
Reference
PMID:31461301 (CMD2H)
  Authors
Verhagen JMA, van den Born M, van der Linde HC, G J Nikkels P, Verdijk RM, Kivlen MH, van Unen LMA, Baas AF, Ter Heide H, van Osch-Gevers L, Hoogeveen-Westerveld M, Herkert JC, Bertoli-Avella AM, van Slegtenhorst MA, Wessels MW, Verheijen FW, Hassel D, Hofstra RMW, Hegde RS, van Hasselt PM, van Ham TJ, van de Laar IMBH
  Title
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
  Journal
Circ Genom Precis Med 12:397-406 (2019)
DOI:10.1161/CIRCGEN.119.002507
Reference
PMID:30518548 (CMD2I)
  Authors
Aspit L, Levitas A, Etzion S, Krymko H, Slanovic L, Zarivach R, Etzion Y, Parvari R
  Title
CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.
  Journal
J Med Genet 56:228-235 (2019)
DOI:10.1136/jmedgenet-2018-105498
Reference
PMID:37561591 (CMD2J)
  Authors
Ruijmbeek CW, Housley F, Idrees H, Housley MP, Pestel J, Keller L, Lai JK, der Linde HCV, Willemsen R, Piesker J, Al-Hassnan ZN, Almesned A, Dalinghaus M, den Bersselaar LMV, van Slegtenhorst MA, Tessadori F, Bakkers J, van Ham TJ, Stainier DY, Verhagen JM, Reischauer S
  Title
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.
  Journal
JCI Insight 8:168247 (2023)
DOI:10.1172/jci.insight.168247
Reference
PMID:8361506 (CMD3B)
  Authors
Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, et al.
  Title
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.
  Journal
N Engl J Med 329:921-5 (1993)
DOI:10.1056/NEJM199309233291304
Reference
PMID:8630491 (BTHS)
  Authors
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D
  Title
A novel X-linked gene, G4.5. is responsible for Barth syndrome.
  Journal
Nat Genet 12:385-9 (1996)
DOI:10.1038/ng0496-385
Reference
PMID:10425186 (HLA-DRB1)
  Authors
Hiroi S, Harada H, Nishi H, Satoh M, Nagai R, Kimura A
  Title
Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese.
  Journal
Biochem Biophys Res Commun 261:332-9 (1999)
DOI:10.1006/bbrc.1999.1036

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