{"orpha":54260,"name":"Left ventricular noncompaction","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spongy myocardium","LVNC","Left ventricular hypertrabeculation"],"definition":"A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-54260/","orphanet_url":"https://www.orpha.net/en/disease/detail/54260","names":{"fr":{"name":"Non-compaction ventriculaire gauche","synonyms":["Hypertrabéculation ventriculaire gauche","Myocarde spongieux","NCVG"],"definition":"Cardiomyopathie rare caractérisée sur le plan anatomique par des trabéculations ventriculaires gauches proéminentes et des niches intratrabéculaires profondes provoquant une dysfonction systolique et diastolique, des anomalies de communication, et occasionnellement des épisodes thrombo-emboliques."},"de":{"name":"Linksventrikuläre Noncompaction-Kardiomyopathie","synonyms":["Hypertrabekulierung, linksventrikuläre","LVNC","Myokard, spongiöses"],"definition":"Eine seltene Kardiomyopathie, die anatomisch durch ausgeprägte linksventrikuläre trabekuläre Strukturen und tiefe intratrabekuläre Aussparungen gekennzeichnet ist und eine progressive systolische und diastolische Dysfunktion, Leitungsstörungen und gelegentlich thromboembolische Ereignisse verursacht."},"es":{"name":"No compactación del ventrículo izquierdo","synonyms":["Hipertrabeculación del ventrículo izquierdo","LVNC","Miocardio esponjoso"],"definition":"Es una miocardiopatía poco frecuente caracterizada anatómicamente por trabeculaciones prominentes en ventrículo izquierdo y recesos intratrabeculares profundos que causan una disfunción sistólica y diastólica progresiva, anomalías de la conducción y, ocasionalmente, eventos tromboembólicos."},"it":{"name":"Non compattazione del ventricolo sinistro","synonyms":["Ipertrabecolazione del ventricolo sinistro","LVNC","Miocardio spongioso"]},"nl":{"name":"Non-compactie van linkerventrikel","synonyms":["LVNC","Linkerventrikelhypertrabeculatie","Sponsachtig myocardium"],"definition":"Een zeldzame cardiomyopathie, anatomisch gekenmerkt door prominente trabekels en diepe intratrabekulaire nissen in linkerventrikel, die progressieve systolische en diastolische disfunctie, geleidingsstoornissen, en soms trombo-embolische voorvallen veroorzaken."},"pt":{"name":"Não-compactação ventricular esquerda","synonyms":["Hipertrabeculação ventricular esquerda","Miocardio esponjoso"]},"pl":{"name":"Niescalony mięsień lewej komory","synonyms":["Gąbkowe miokardium","LVNC","Wzmożone beleczkowanie lewej komory"]},"cs":{"name":"Nonkompaktní kardiomyopatie levé komory","synonyms":["LVNC","Levostranná komorová hypertrabekulizace","Spongioformní kardiomyopatie"]},"uk":{"name":"Неущільнення лівого шлуночка","synonyms":["Гіпертрабекуляція лівого шлуночка","LVNC","Губчастий міокард"],"definition":"A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events."},"zh":{"name":"左心室致密化不全","synonyms":["左室肌小梁形成过度"]},"tr":{"name":"Kompakte olmayan sol ventrikül","synonyms":["LVNC","Süngerimsi miyokard","Sol ventriküler hipertrabekülasyon"]}},"xrefs":[{"source":"OMIM","code":"601493","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601494","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604169","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609470","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611878","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613424","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613426","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615092","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615373","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615396","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC44","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"226977635"},{"source":"MONDO","code":"0018901","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1960469","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":477805,"name":"Genetic cardiac malformation","classifications":[156]},{"orpha":300755,"name":"Laminopathy with striated muscle involvement","classifications":[156]},{"orpha":217678,"name":"Unclassified cardiomyopathy","classifications":[146]}],"children":[],"genes":[{"symbol":"DTNA","name":"dystrobrevin alpha","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11238270[PMID]","hgnc":"3057","ensembl":"ENSG00000134769","omim":"601239","loci":["18q12.1"]},{"symbol":"MYBPC3","name":"myosin binding protein C3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21551322[PMID]","hgnc":"7551","ensembl":"ENSG00000134571","omim":"600958","loci":["11p11.2"]},{"symbol":"MIB1","name":"MIB E3 ubiquitin protein ligase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23314057[PMID]","hgnc":"21086","ensembl":"ENSG00000101752","omim":"608677","loci":["18q11.2"]},{"symbol":"MYH7","name":"myosin heavy chain 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25415959[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"]},{"symbol":"MYH7B","name":"myosin heavy chain 7B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23800289[PMID]","hgnc":"15906","ensembl":"ENSG00000078814","omim":"609928","loci":["20q11.22"]},{"symbol":"PKP2","name":"plakophilin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27030002[PMID]","hgnc":"9024","ensembl":"ENSG00000057294","omim":"602861","loci":["12p11.21"]},{"symbol":"PRDM16","name":"PR/SET domain 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23768516[PMID]","hgnc":"14000","ensembl":"ENSG00000142611","omim":"605557","loci":["1p36.32"]},{"symbol":"TBX20","name":"T-box transcription factor 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37657916[PMID]","hgnc":"11598","ensembl":"ENSG00000164532","omim":"606061","loci":["7p14.2"]},{"symbol":"TNNT2","name":"troponin T2, cardiac type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20083571[PMID]","hgnc":"11949","ensembl":"ENSG00000118194","omim":"191045","loci":["1q32.1"]},{"symbol":"TPM1","name":"tropomyosin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21551322[PMID]","hgnc":"12010","ensembl":"ENSG00000140416","omim":"191010","loci":["15q22.2"]},{"symbol":"ACTC1","name":"actin alpha cardiac muscle 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17611253[PMID]_18506004[PMID]","hgnc":"143","ensembl":"ENSG00000159251","omim":"102540","loci":["15q14"]},{"symbol":"LDB3","name":"LIM domain binding 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"15710","ensembl":"ENSG00000122367","omim":"605906","loci":["10q23.2"]},{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]},{"symbol":"MIB2","name":"MIB E3 ubiquitin protein ligase 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28013292[PMID]","hgnc":"30577","ensembl":"ENSG00000197530","omim":"611141","loci":["1p36.33"]},{"symbol":"PLEKHM2","name":"pleckstrin homology and RUN domain containing M2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26464484[PMID]","hgnc":"29131","ensembl":"ENSG00000116786","omim":"609613","loci":["1p36.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}