Left ventricular noncompaction

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Left ventricular noncompaction

ORPHA:54260Disease

Also called Spongy myocardium · LVNC · Left ventricular hypertrabeculation

What it is

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.

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
Classified as
Disease

Genes

ACTC1Major susceptibility factor
LDB3Major susceptibility factor
LMNAMajor susceptibility factor
MIB1Disease-causing germline mutation(s) (loss of function)
MIB2Major susceptibility factor
MYH7Disease-causing germline mutation(s)
MYH7BDisease-causing germline mutation(s)
PKP2Disease-causing germline mutation(s)
PLEKHM2Major susceptibility factor
PRDM16Disease-causing germline mutation(s)
TBX20Disease-causing germline mutation(s)
TNNT2Disease-causing germline mutation(s)
TPM1Disease-causing germline mutation(s)
DTNACandidate gene tested
MYBPC3Candidate gene tested

ICD-10 codes

I42.8filed under a broader ICD-10 category — shared with 5 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10985MONDO 0018901OMIM 601493OMIM 601494OMIM 604169OMIM 609470OMIM 611878OMIM 613424OMIM 613426OMIM 615092OMIM 615373OMIM 615396UMLS C1960469

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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