KEGG DISEASE: Left ventricular noncompaction

KEGG

DISEASE: Left ventricular noncompaction

Entry

H01216                      Disease

Name

Left ventricular noncompaction

Supergrp

Dilated cardiomyopathy [DS:H00294]
Dystrophinopathies [DS:H00562]

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 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-based classification of diseases [BR:br08402]
Signal transduction
  nt06511  NOTCH signaling
   H01216  Left ventricular noncompaction
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H01216  Left ventricular noncompaction

Pathway

Cytoskeleton in muscle cells

Network

nt06511 NOTCH signaling
nt06539 Cytoskeleton in muscle cells

Gene

(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]

Other DBs

ICD-11:

ICD-10:

MeSH:

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

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

Reference

PMID:29118297 (DTNA)

Authors

Cao Q, Shen Y, Liu X, Yu X, Yuan P, Wan R, Liu X, Peng X, He W, Pu J, Hong K

Title

Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation.

Journal

Int Heart J 58:939-947 (2017)
DOI:10.1536/ihj.16-019

Reference

PMID:14662268 (LDB3)

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:17611253 (ACTC1)

Authors

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

Title

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

Journal

Eur Heart J 28:1953-61 (2007)
DOI:10.1093/eurheartj/ehm239

Reference

PMID:18506004 (MYH7)

Authors

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

Title

Mutations in sarcomere protein genes in left ventricular noncompaction.

Journal

Circulation 117:2893-901 (2008)
DOI:10.1161/CIRCULATIONAHA.107.746164

Reference

PMID:20083571 (TNNT2)

Authors

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

Title

Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation.

Journal

Cardiovasc Res 86:452-60 (2010)
DOI:10.1093/cvr/cvq009

Reference

PMID:23314057 (MIB1)

Authors

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

Title

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.

Journal

Nat Med 19:193-201 (2013)
DOI:10.1038/nm.3046

Reference

PMID:23768516 (PRDM16)

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:29024827 (TPM1)

Authors

Nijak A, Alaerts M, Kuiperi C, Corveleyn A, Suys B, Paelinck B, Saenen J, Van Craenenbroeck E, Van Laer L, Loeys B, Verstraeten A

Title

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

Journal

Eur J Med Genet 61:8-10 (2018)
DOI:10.1016/j.ejmg.2017.10.003

Reference

PMID:21551322 (MYBPC3)

Authors

Probst S, Oechslin E, Schuler P, Greutmann M, Boye P, Knirsch W, Berger F, Thierfelder L, Jenni R, Klaassen S

Title

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

Journal

Circ Cardiovasc Genet 4:367-74 (2011)
DOI:10.1161/CIRCGENETICS.110.959270

LinkDB

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