Review Article

The Mutations Associated with Dilated Cardiomyopathy

Table 1

Disease genes for primary cardiomyopathy.

Clinical typeInheritanceGene name (symbol)Encoded proteinFunction

HCM/DCM/RCMADMyosin heavy chain 7, (MYH7)Cardiac beta-myosin heavy chainContraction
HCM/DCM/atrial septal defect type 3ADMyosin heavy chain 6, (MYH6)Cardiac alpha-myosin heavy chainContraction
HCM/DCM/RCMADTroponin T2, cardiac (TNNT2)Cardiac troponin TCalcium sensitivity
/LVNC
HCM/DCM/LVNCADTropomyosin 1 (TPM1)Alpha-tropomyosinCalcium sensitivity
HCM/DCMADMyosin binding protein 3, cardiac (MYBPC3)Cardiac myosin-bindingCalcium sensitivity
protein C
HCM/DCM/RCMAD, ARTroponin I3, cardiac (TNNI3)Cardiac troponin I3Calcium sensitivity
HCM/DCMADActin alpha cardiac (ACTC1)Alpha cardiac actinContraction
HCM/DCMAD/ARTitin (TTN)TitinConnection
HCM/DCMADTroponin C1, cardiac (TNNC1)Cardiac troponin C type 1 slowCalcium sensitivity
HCM/DCMADCystein- and glycine-rich protein 3 (CSRP3)Cardiac LIM proteinConnection
HCM/DCMADTitin cap (TCAP)Telethonin (tcap)Connection
HCM/DCMADVinculin (VCL)MetavinculinConnection
HCM/DCMADAnkyrin repeat domain containingAnkyrin repeat domain 1Connection
protein (ANKRD1)containing protein
DCM/RCMADDesmin (DES)DesminConnection
DCMADLamin A/C (LMNA)Lamin A/CNuclear scaffold
DCMADSarcoglycan-delta (SGCD)Delta sarcoglycanConnection
DCMADActinin alpha 2 (ACTN2)Alpha actinin 2Connection
DCM/LVNCADLim domain binding 3 (LDB3)Zasp/CYPHERBinds proteinkinase C
DCMADPhospholamban (PLB)PhospholambanCalcium sensitivity
DCMADPresenilin 1 (PSEN1)Presenilin 1Calcium sensitivity
DCMADPresenilin 2 (PSEN2)Presenilin 2Calcium sensitivity
DCMADATP binding cassette C9 (ABCC9)KATP channelIon regulation
DCMADSodium channel voltage-gated 5A (SCN5A)Cardiac Na channelIon regulation
DCM/HCMADMuscle-restricted coiled-coil (MURC)Muscle-restricted coiled-coilConnection
DCM/HCMADCrystallin-alpha B (CRYAB)Alpha B crystallinConnection/stress response
DCMADFour and a half Lim domains 2 (FHL2)Four and a half Lim domains 2Connection
DCMADLaminin alpha 4 (LAMA4)Laminin alpha 4Connection
DCMADNebulette (NEBL)NebuletteMyofibrinogenesis
DCM/HCM/RCMADMyopalladin (MYPN)MyopalladinConnection
DCMADRNA-binding motif protein 20 (RBM20)RNA-binding motif protein 20Splicing
HCM/DCMADNexilin (NEXN)NexilinConnection
DCMADBcl2-associated athanogene 3 (BAG3)Bcl2-associated athanogene 3 proteinChaperone activity
DCMXRDystrophin (DMD)DystrophinConnection
DCMXREmerin (EMD)EmerineNuclear membrane anchorage to thecytoskeleton
DCM/LVNCXRTafazzin (TAZ)TafazzinMetabolism
DCMXRFukutin (FKTN)FukutinConnection
DCM/ARVCARDesmoplakin (DSP)DesmoplakinConnection
DCMARDolichol kinase (DOLK)Dolichol kinaseConnection
DCMARGATA zinc finger domain-containing protein 1 (GATAD1)GATA zinc finger domain-containing protein 1Gene expression
DCM/ARVCAR/ADPlakoglobin (JUP)Junction plakoglobinConnection
DCMARFlavoprotein (SDHA)FlavoproteinMetabolism

AD: autosomal dominant; AR: autosomal recessive; ARVC: arrhythmogenic right ventricular cardiomyopathy; DCM: dilated cardiomyopathy; HCM: hypertrophic cardiomyopathy; RCM: restrictive cardiomyopathy; LVNC: left ventricular noncompaction; XR-X-linked recessive.