ORPHA:54260
Left ventricular noncompaction
Synonyms: Spongy myocardium · LVNC · Left ventricular hypertrabeculation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
- Age of onset
- All ages
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Left ventricular noncompaction | Spongy myocardium · LVNC · Left ventricular hypertrabeculation |
| fr | Non-compaction ventriculaire gauche | Hypertrabéculation ventriculaire gauche · Myocarde spongieux · NCVG |
| de | Linksventrikuläre Noncompaction-Kardiomyopathie | Hypertrabekulierung, linksventrikuläre · LVNC · Myokard, spongiöses |
| es | No compactación del ventrículo izquierdo | Hipertrabeculación del ventrículo izquierdo · LVNC · Miocardio esponjoso |
| it | Non compattazione del ventricolo sinistro | Ipertrabecolazione del ventricolo sinistro · LVNC · Miocardio spongioso |
| nl | Non-compactie van linkerventrikel | LVNC · Linkerventrikelhypertrabeculatie · Sponsachtig myocardium |
| pt | Não-compactação ventricular esquerda | Hipertrabeculação ventricular esquerda · Miocardio esponjoso |
| pl | Niescalony mięsień lewej komory | Gąbkowe miokardium · LVNC · Wzmożone beleczkowanie lewej komory |
| cs | Nonkompaktní kardiomyopatie levé komory | LVNC · Levostranná komorová hypertrabekulizace · Spongioformní kardiomyopatie |
| uk | Неущільнення лівого шлуночка | Гіпертрабекуляція лівого шлуночка · LVNC · Губчастий міокард |
| zh | 左心室致密化不全 | 左室肌小梁形成过度 |
| tr | Kompakte olmayan sol ventrikül | LVNC · Süngerimsi miyokard · Sol ventriküler hipertrabekülasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601493 | NTBT | validated | |
| OMIM | 601494 | NTBT | validated | |
| OMIM | 604169 | E | validated | |
| OMIM | 609470 | BTNT | validated | |
| OMIM | 611878 | NTBT | validated | |
| OMIM | 613424 | NTBT | validated | |
| OMIM | 613426 | NTBT | validated | |
| OMIM | 615092 | BTNT | validated | |
| OMIM | 615373 | BTNT | validated | |
| OMIM | 615396 | BTNT | validated | |
| ICD-10 | I42.8 | NTBT | attributed | validated |
| ICD-11 | BC44 | NTBT | index | validated |
| MONDO | 0018901 | E | validated | |
| UMLS | C1960469 | E | validated | |
| GARD | 10985 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:477805Genetic cardiac malformation
rare genetic diseases - ORPHA:300755Laminopathy with striated muscle involvement
rare genetic diseases - ORPHA:217678Unclassified cardiomyopathy
rare cardiac diseases
No children.
4
Genes
15 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DTNA | Candidate gene tested in | Not yet assessed | HGNC:3057 | ENSG00000134769 | 601239 | 18q12.1 | dystrobrevin alpha | 11238270[PMID] |
| MYBPC3 | Candidate gene tested in | Not yet assessed | HGNC:7551 | ENSG00000134571 | 600958 | 11p11.2 | myosin binding protein C3 | 21551322[PMID] |
| MIB1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21086 | ENSG00000101752 | 608677 | 18q11.2 | MIB E3 ubiquitin protein ligase 1 | 23314057[PMID] |
| MYH7 | Disease-causing germline mutation(s) in | Assessed | HGNC:7577 | ENSG00000092054 | 160760 | 14q11.2 | myosin heavy chain 7 | 25415959[PMID] |
| MYH7B | Disease-causing germline mutation(s) in | Assessed | HGNC:15906 | ENSG00000078814 | 609928 | 20q11.22 | myosin heavy chain 7B | 23800289[PMID] |
| PKP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9024 | ENSG00000057294 | 602861 | 12p11.21 | plakophilin 2 | 27030002[PMID] |
| PRDM16 | Disease-causing germline mutation(s) in | Assessed | HGNC:14000 | ENSG00000142611 | 605557 | 1p36.32 | PR/SET domain 16 | 23768516[PMID] |
| TBX20 | Disease-causing germline mutation(s) in | Assessed | HGNC:11598 | ENSG00000164532 | 606061 | 7p14.2 | T-box transcription factor 20 | 37657916[PMID] |
| TNNT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11949 | ENSG00000118194 | 191045 | 1q32.1 | troponin T2, cardiac type | 20083571[PMID] |
| TPM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12010 | ENSG00000140416 | 191010 | 15q22.2 | tropomyosin 1 | 21551322[PMID] |
| ACTC1 | Major susceptibility factor in | Assessed | HGNC:143 | ENSG00000159251 | 102540 | 15q14 | actin alpha cardiac muscle 1 | 17611253[PMID]_18506004[PMID] |
| LDB3 | Major susceptibility factor in | Not yet assessed | HGNC:15710 | ENSG00000122367 | 605906 | 10q23.2 | LIM domain binding 3 | |
| LMNA | Major susceptibility factor in | Not yet assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | |
| MIB2 | Major susceptibility factor in | Assessed | HGNC:30577 | ENSG00000197530 | 611141 | 1p36.33 | MIB E3 ubiquitin protein ligase 2 | 28013292[PMID] |
| PLEKHM2 | Major susceptibility factor in | Assessed | HGNC:29131 | ENSG00000116786 | 609613 | 1p36.21 | pleckstrin homology and RUN domain containing M2 | 26464484[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/54260
- This record as JSON: /data/d/54260.json