Left ventricular noncompaction

General Information (adopted from Orphanet):

Synonyms, Signs: LVNC
Spongy myocardium
Left ventricular hypertrabeculation
Number of Symptoms 27
OrphanetNr: 54260
OMIM Id: 601493
601494
604169
609470
611878
613424
613426
615092
615373
615396
ICD-10: I42.8
UMLs: C1960469
MeSH:
MedDRA:
Snomed: 427608000

Prevalence, inheritance and age of onset:

Prevalence: < 50 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic cardiac disease
 -Rare genetic disease
Unclassified cardiomyopathy
 -Rare cardiac disease

Comment:

Left ventricular non-compaction is characterised by abnormal trabeculations in the left ventricle, most frequently at the apex. It can be associated with left ventricular dilation or hypertrophy, systolic or diastolic dysfunction, or both, or various forms of congenital heart disease. Affected individuals are at risk of left or right ventricular failure, or both. Heart failure symptoms can be induced by exercise or be persistent at rest, but many patients are asymptomatic (PMID:25865865).

Symptom Information: Sort by abundance 

1
 (HPO:0001629) Ventricular septal defect 15210614 IBIS 316 / 7739
2
 (HPO:0001678) Atrioventricular block 25865865 IBIS 59 / 7739
3
 (HPO:0200128) Biventricular hypertrophy 23633270 IBIS 11 / 7739
4
 (HPO:0005110) Atrial fibrillation Occasional [IBIS] 29% (n=17) 9005281 IBIS 71 / 7739
5
 (HPO:0001723) Restrictive cardiomyopathy 25865865 IBIS 22 / 7739
6
 (HPO:0001279) Syncope 25865865 IBIS 94 / 7739
7
 (HPO:0001712) Left ventricular hypertrophy Occasional [IBIS] 27% (n=207) 23633270 IBIS 76 / 7739
8
 (HPO:0004756) Ventricular tachycardia Frequent [IBIS] 38% (n=8) 2372897 IBIS 55 / 7739
9
 (HPO:0001711) Abnormality of the left ventricle 25865865 IBIS 22 / 7739
10
 (HPO:0004308) Ventricular arrhythmia 25865865 IBIS 46 / 7739
11
 (HPO:0001708) Right ventricular failure 25865865 IBIS 11 / 7739
12
 (HPO:0001635) Congestive heart failure Frequent [IBIS] 63% (n=8) 2372897 IBIS 232 / 7739
13
 (HPO:0001977) Abnormal thrombosis Occasional [IBIS] 25% (n=8) 9005281 IBIS 11 / 7739
14
 (HPO:0002204) Pulmonary embolism Occasional [IBIS] 6% (n=17) 9005281 IBIS 26 / 7739
15
 (HPO:0003546) Exercise intolerance 25865865 IBIS 62 / 7739
16
 (HPO:0100536) Abnormality of the fascia Frequent [IBIS] 38% (n=8) 2372897 IBIS 1 / 7739
17
 (MedDRA:10071436) Systolic dysfunction 15210614 IBIS 13 / 7739
18
 (OMIM) Left ventricular noncompaction 25865865 IBIS 7 / 7739
19
 (MedDRA:10024119) Left ventricular failure 25865865 IBIS 2 / 7739
20
 (OMIM) Prominent trabeculations 2372897 IBIS 3 / 7739
21
 (IBIS) Intertrabecular recesses 25865865 IBIS 2 / 7739
22
 (OMIM) Left ventricular dilation Frequent [IBIS] 66% (n=45) 15618076 IBIS 13 / 7739
23
 (OMIM) Left ventricular enlargement 25865865 IBIS 9 / 7739
24
 (MedDRA:10000032) Cardiac conduction disorders 25865865 IBIS 5 / 7739
25
 (OMIM) Wolf-Parkinson-White syndrome Occasional [IBIS] 13% (n=8) 2372897 IBIS 4 / 7739
26
 (MedDRA:10052337) Diastolic dysfunction 15210614 IBIS 14 / 7739
27
 (HPO:0001699) Sudden death Occasional [IBIS] 13% (n=8) 2372897 IBIS 34 / 7739

Associated genes:

TAZ; NKX2-5; MYH7; LDB3; ACTC1; TNNT2; MYBPC3; TPM1; TNNI3; LMNA; SCN5A; DSP; NSD1; PMP22;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
ACTC1 rs193922680 pathogenic RCV000019997.27
DSP rs587782927 likely pathogenic RCV000133469.1
DTNA rs104894654 pathogenic RCV000008804.4
LDB3 rs45514002 pathogenic RCV000005001.4
MIB1 rs200035428 pathogenic RCV000033169.2
MIB1 rs201850378 pathogenic RCV000033170.2
MYBPC3 rs121909376 pathogenic RCV000009146.6
MYBPC3 rs199865688 pathogenic RCV000054796.4
MYBPC3 rs200625851 pathogenic RCV000054834.4
MYBPC3 rs371401403 pathogenic RCV000054802.3
MYBPC3 rs397514751 pathogenic RCV000054798.4
MYBPC3 rs397516028 likely pathogenic RCV000035600.2
MYBPC3 rs727503166 pathogenic RCV000151057.1
MYH7 rs121913654 pathogenic RCV000015183.26
MYH7 rs267606909 pathogenic RCV000015189.25
MYH7 rs267606910 pathogenic RCV000015187.25
MYH7 rs397515482 pathogenic RCV000056316.25
MYH7 rs587782961 likely pathogenic RCV000143920.1
MYH7 rs606231324 likely pathogenic RCV000157356.1
PRDM16 rs397514742 pathogenic RCV000054518.2
PRDM16 rs397514743 pathogenic RCV000054520.2
TNNT2 rs121964855 pathogenic RCV000013218.16
TNNT2 rs121964860 pathogenic RCV000013228.24
TNNT2 rs121964861 pathogenic RCV000013229.22
TNNT2 rs397516450 likely pathogenic RCV000036562.2
TNNT2 rs397516454 likely pathogenic RCV000036570.2
TNNT2 rs397516461 likely pathogenic RCV000036581.2
TNNT2 rs397516464 likely pathogenic RCV000036585.2
TNNT2 rs397516464 likely pathogenic RCV000036586.2
TNNT2 rs397516469 likely pathogenic RCV000036594.2
TNNT2 rs397516471 likely pathogenic RCV000036597.2
TNNT2 rs45525839 likely pathogenic RCV000036587.2
TNNT2 rs45578238 pathogenic RCV000036607.3
TNNT2 rs74315379 pathogenic RCV000013225.23
TPM1 rs199476315 pathogenic RCV000054795.24
TPM1 rs199476319 pathogenic RCV000054794.23

Additional Information: