KEGG   DISEASE: 左室緻密化障害
エントリ  
H01216                                                             
名称    
左室緻密化障害
  上位グループ
拡張型心筋症 [DS:H00294]
ジストロフィン異常症 [DS:H00562]
概要    
Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the presence of prominent trabeculations of the left ventricle, associated with progressive systolic failure, stroke and arrhythmia. It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), alpha-dystrobrevin (DTNA), and genes encoding the sarcomeric proteins, beta-myosin heavy chain (MYH7), alpha-cardiac actin (ACTC), and cardiac troponin T (TNNT2).
カテゴリ  
循環器系疾患
階層分類  
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
   BC44  左室緻密化障害心筋症
    H01216  左室緻密化障害
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06511  NOTCH シグナリング
   H01216  左室緻密化障害
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H01216  左室緻密化障害
パスウェイ 
hsa04820  Cytoskeleton in muscle cells
ネットワーク
nt06511 NOTCH signaling
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
(LVNC1) DTNA [HSA:1837] [KO:K26998]
(LVNC3) LDB3 [HSA:11155] [KO:K19867]
(LVNC4) ACTC1 [HSA:70] [KO:K12314]
(LVNC5) MYH7 [HSA:4625] [KO:K17751]
(LVNC6) TNNT2 [HSA:7139] [KO:K12045]
(LVNC7) MIB1 [HSA:57534] [KO:K10645]
(LVNC8) PRDM16 [HSA:63976] [KO:K22410]
(LVNC9) TPM1 [HSA:7168] [KO:K10373]
(LVNC10) MYBPC3 [HSA:4607] [KO:K12568]
リンク   
ICD-11: BC44
ICD-10: I42.8
MeSH: D056830
OMIM: 604169 601493 613424 613426 601494 615092 615373 611878 615396
文献    
  著者
Ichida F
  タイトル
Left ventricular noncompaction.
  雑誌
Circ J 73:19-26 (2009)
DOI:10.1253/circj.CJ-08-0995
文献    
  著者
Oechslin E, Jenni R
  タイトル
Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
  雑誌
Eur Heart J 32:1446-56 (2011)
DOI:10.1093/eurheartj/ehq508
文献    
PMID:29118297 (DTNA)
  著者
Cao Q, Shen Y, Liu X, Yu X, Yuan P, Wan R, Liu X, Peng X, He W, Pu J, Hong K
  タイトル
Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation.
  雑誌
Int Heart J 58:939-947 (2017)
DOI:10.1536/ihj.16-019
文献    
PMID:14662268 (LDB3)
  著者
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
  タイトル
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
  雑誌
J Am Coll Cardiol 42:2014-27 (2003)
DOI:10.1016/j.jacc.2003.10.021
文献    
PMID:17611253 (ACTC1)
  著者
Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Dumont C, Cazon L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A
  タイトル
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.
  雑誌
Eur Heart J 28:1953-61 (2007)
DOI:10.1093/eurheartj/ehm239
文献    
PMID:18506004 (MYH7)
  著者
Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hurlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L
  タイトル
Mutations in sarcomere protein genes in left ventricular noncompaction.
  雑誌
Circulation 117:2893-901 (2008)
DOI:10.1161/CIRCULATIONAHA.107.746164
文献    
PMID:20083571 (TNNT2)
  著者
Luedde M, Ehlermann P, Weichenhan D, Will R, Zeller R, Rupp S, Muller A, Steen H, Ivandic BT, Ulmer HE, Kern M, Katus HA, Frey N
  タイトル
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation.
  雑誌
Cardiovasc Res 86:452-60 (2010)
DOI:10.1093/cvr/cvq009
文献    
PMID:23314057 (MIB1)
  著者
Luxan G, Casanova JC, Martinez-Poveda B, Prados B, D'Amato G, MacGrogan D, Gonzalez-Rajal A, Dobarro D, Torroja C, Martinez F, Izquierdo-Garcia JL, Fernandez-Friera L, Sabater-Molina M, Kong YY, Pizarro G, Ibanez B, Medrano C, Garcia-Pavia P, Gimeno JR, Monserrat L, Jimenez-Borreguero LJ, de la Pompa JL
  タイトル
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.
  雑誌
Nat Med 19:193-201 (2013)
DOI:10.1038/nm.3046
文献    
PMID:23768516 (PRDM16)
  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    
PMID:29024827 (TPM1)
  著者
Nijak A, Alaerts M, Kuiperi C, Corveleyn A, Suys B, Paelinck B, Saenen J, Van Craenenbroeck E, Van Laer L, Loeys B, Verstraeten A
  タイトル
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.
  雑誌
Eur J Med Genet 61:8-10 (2018)
DOI:10.1016/j.ejmg.2017.10.003
文献    
PMID:21551322 (MYBPC3)
  著者
Probst S, Oechslin E, Schuler P, Greutmann M, Boye P, Knirsch W, Berger F, Thierfelder L, Jenni R, Klaassen S
  タイトル
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
  雑誌
Circ Cardiovasc Genet 4:367-74 (2011)
DOI:10.1161/CIRCGENETICS.110.959270
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