KEGG   DISEASE: 拡張型心筋症
エントリ  
H00294                                                             
名称    
拡張型心筋症
  下位グループ
バース症候群 (BTHS) [DS:H00654]
  上位グループ
ジストロフィン異常症 [DS:H00562]
概要    
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.
カテゴリ  
循環器系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  心疾患
   H00294  拡張型心筋症
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  心筋または心室の疾患
   BC43  心筋症
    H00294  拡張型心筋症
特定疾患 (難病) [jp08407.html]
 H00294
パスウェイ 
hsa05414  拡張型心筋症
関連パスウェイ
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04260  Cardiac muscle contraction
病因遺伝子 
(CMD1A) LMNA [HSA:4000] [KO:K12641]
(CMD1B) DMD [HSA:1756] [KO:K10366]
(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]
(CMD1T) TMPO [HSA:7112] [KO:K24031]
(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]
(CMD2A) TNNI3 [HSA:7137] [KO:K12044]
(CMD2B) GATAD1 [HSA:57798] [KO:K23407]
(CMD2C) PPCS [HSA:79717] [KO:K01922]
(CMD2D) RPL3L [HSA:6123] [KO:K02925]
(CMD2E) JPH2 [HSA:57158] [KO:K19530]
(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) 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]
(BTHS) TAZ [HSA:6901] [KO:K13511]
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752]
HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
環境要因  
LPS [CPD:C00338]
Ethanol [CPD:C00469]
Anthracycline
Low oxygen [CPD:C00007]
治療薬   
ビソプロロールフマル酸塩 [DR:D00634]
カルベジロール [DR:D00255]
リンク   
ICD-11: BC43.0
ICD-10: I42
OMIM: 115200 302045 601493 601494 601154 604145 604765 605362 606685 607482 608569 609909 613424 613426 613694 613697 611407 611615 611878 611879 611880 614672 618189 619371 619492 612158 613122 613172 613252 613286 613642 613881 615184 615235 615248 615396 615916 607487 612877 615373
文献    
  著者
Fatkin D, Graham RM
  タイトル
Molecular mechanisms of inherited cardiomyopathies.
  雑誌
Physiol Rev 82:945-80 (2002)
DOI:10.1152/physrev.00012.2002
文献    
  著者
Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
  タイトル
Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
  雑誌
Cardiovasc J S Afr 14:145-55 (2003)
文献    
  著者
Hershberger RE, Morales A, Siegfried JD
  タイトル
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.
  雑誌
Genet Med 12:655-67 (2010)
DOI:10.1097/GIM.0b013e3181f2481f
文献    
  著者
Franciosi S
  タイトル
Nexilin: a potential novel factor contributing to dilated cardiomyopathy.
  雑誌
Clin Genet 77:535-6 (2010)
DOI:10.1111/j.1399-0004.2010.01396_1.x
文献    
  著者
Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R
  タイトル
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
  雑誌
Eur J Hum Genet 18:1160-5 (2010)
DOI:10.1038/ejhg.2010.83
文献    
  著者
Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A
  タイトル
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
  雑誌
Circ J 73:158-61 (2009)
DOI:10.1253/circj.CJ-08-0722
文献    
  著者
Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM
  タイトル
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
  雑誌
Circ Cardiovasc Genet 4:585-94 (2011)
DOI:10.1161/CIRCGENETICS.111.961052
文献    
  著者
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
  タイトル
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
  雑誌
Circulation 116:515-25 (2007)
DOI:10.1161/CIRCULATIONAHA.107.689984
文献    
  著者
Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S
  タイトル
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
  雑誌
Eur J Hum Genet 21:294-300 (2013)
DOI:10.1038/ejhg.2012.173
文献    
  著者
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
  タイトル
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
  雑誌
Mol Genet Metab 95:74-80 (2008)
DOI:10.1016/j.ymgme.2008.06.005
文献    
  著者
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
  タイトル
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
  雑誌
Am J Hum Genet 93:67-77 (2013)
DOI:10.1016/j.ajhg.2013.05.015
文献    
  著者
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
  タイトル
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
  雑誌
Hum Genet 139:1443-1454 (2020)
DOI:10.1007/s00439-020-02188-6
文献    
  著者
Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP
  タイトル
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.
  雑誌
Sci Rep 9:9038 (2019)
DOI:10.1038/s41598-019-44987-6
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