KEGG   DISEASE: Left ventricular noncompaction
Entry
H01216                      Disease                                

Name
Left ventricular noncompaction
Description
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).
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H01216  Left ventricular noncompaction
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC44  Noncompaction cardiomyopathy
    H01216  Left ventricular noncompaction
Pathway
hsa04260  Cardiac muscle contraction
Gene
(LVNC1) DTNA [HSA:1837]
(LVNC3) LDB3/ZASP [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]
Other DBs
ICD-11: BC44
ICD-10: I42.8
MeSH: D056830
OMIM: 604169 601493 613424 613426 601494 615092 615373 611878 615396
Reference
  Authors
Ichida F
  Title
Left ventricular noncompaction.
  Journal
Circ J 73:19-26 (2009)
DOI:10.1253/circj.CJ-08-0995
Reference
  Authors
Pantazis AA, Elliott PM
  Title
Left ventricular noncompaction.
  Journal
Curr Opin Cardiol 24:209-13 (2009)
DOI:10.1097/HCO.0b013e32832a11e7
Reference
  Authors
Antonio M, Costa C, Venancio M, Martins P, Dionisio T, Pires A, Sousa G, Santos I, Mota A, Duarte R, Costa H, Ribeiro L, Saraiva J, Castela E
  Title
Left ventricular noncompaction: analysis of a pediatric population.
  Journal
Rev Port Cardiol 30:295-311 (2011)
Reference
  Authors
Oechslin E, Jenni R
  Title
Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
  Journal
Eur Heart J 32:1446-56 (2011)
DOI:10.1093/eurheartj/ehq508
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