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. 2019 Sep 30;90(Suppl 10):32–43. doi: 10.23750/abm.v90i10-S.8755

Table 4.

Genes associated with various forms of left ventricular noncompaction

Gene OMIM gene Disease OMIM disease Inheritance Function
MYH7 160760 LVNC5 613426 AD Beta heavy chain subunit of cardiac myosin
MYBPC3 600958 LVNC10 615396 AD Cardiac isoform of myosin-binding protein C found in cross-bridge-bearing zone (C region) of A bands
TPM1 191010 LVNC9 611878 AD Ca2+-dependent regulation of striated muscle contraction
PRDM16 605557 LVNC8 615373 AD Transcriptional cofactor essential for heart development
MIB1 608677 LVNC7 615092 AD Involved in heart looping process
TNNT2 191045 LVNC6 601494 AD Ca2+-dependent regulator of muscle contraction
ACTC1 102540 LVNC4 613424 AD Localized in muscle tissue contractile system
LDB3 605906 LVNC3 601493 AD Adapter protein in striated muscle; couples protein kinase C-mediated signaling to cytoskeleton
DTNA 601239 LVNC1 604169 AD Component of dystrophin-associated protein complex; localized in sarcolemma
LMNA 150330 LVNC / AD Required for cardiac homeostasis
SCN5A 600163 LVNC / AD Mediates voltage-dependent Na+ permeability of excitable membranes
HCN4 605206 LVNC / AD Necessary for heart pacemaking
PLEKHM2 609613 LVNC / AR Regulates conventional kinesin activity
PKP2 602861 LVNC / AR Plays a role in junctional plaques
SOX6 607257 LVNC / AR Transcriptional activator required for maintenance of cardiac muscle cells
MT-ND1 516000 LVNC / MT Core subunit of mitochondrial membrane respiratory chain NADH dehydrogenase

LVNC=left ventricular noncompaction; AD=Autosomal dominant; AR=Autosomal recessive; MT=Mitochondrial.