Table 1.

Common Genes Associated With the Pediatric Cardiomyopathies

Gene SymbolInheritanceAssociated Cardiac Phenotype(s)Additional Phenotype(s)
HCMDCMRCMNCMARVC
Sarcomere
 Thin filament
  ACTC1ADXXXXAtrial septal defect
  TNNC1ADXX
  TNNI3AD, ARXXX
  TNNT2ADXXXX
  TPM1ADXXX
 Thick filament
  MYBPC3ADXXXX
  MYH7ADXXXXMyopathies
  MYL2ADX
  MYL3AD, ARXX
Z-disc
ACTN2ADXXX
CSRP3ADXX
LDB3ADXXMyofibrillar myopathy
MYOZ2ADX
TCAPAD, ARXXLimb-girdle muscular dystrophy (AR)
TTNADXXXHereditary myopathy with early respiratory failure
Desmosome
DSC2AD, ARXPalmoplantar keratoderma and woolly hair (AR)
DSG2ADXX
DSPAD, ARXXCarvajal syndrome (AR)
JUPAD, ARXNaxos disease (AR)
PKP2ADX
Cytoskeletal
VCLADXX
Intermediate filament
DESAD, ARXLimb-girdle muscular dystrophy (AR), myofibrillar myopathy (AD, AR)
Nuclear membrane
EMDX-linkedXEmery–Dreifuss muscular dystrophy
LMNAAD, ARXXXCongenital muscular dystrophy (AD), Emery–Dreifuss muscular dystrophy (AD, AR)
SYNE1ADXEmery–Dreifuss muscular dystrophy
SYNE2ADXEmery–Dreifuss muscular dystrophy
Plasma membrane
CAV3AD, ARXLimb-girdle muscular dystrophy (AD, AR), long QT (AD)
SGCDAD, ARXLimb-girdle muscular dystrophy (AR)
Other
CRYABAD, ARXMyofibrillar myopathy (AD, AR)
MIB1ADX
RMB20ADX
 Syndromic cardiomyopathies
BRAFADXNoonan/Costello/CFC syndrome
HRASADXNoonan/Costello/CFC syndrome
KRASADXNoonan/Costello/CFC syndrome
PTPN11ADXNoonan/Costello/CFC syndrome
SOS1ADXNoonan/Costello/CFC syndrome
SPRED1ADXNoonan/Costello/CFC syndrome
Metabolic disorders
CPT2ARXCarnitine palmitoyltransferase II deficiency
GAAARXPompe disease (glycogen storage disease Type II)
HADHAARXXLong-chain 3-hydroxyacyl-coenzyme A dehydrogenase
LAMP2X-linkedXXDanon disease (glycogen storage disease type IIb)
MT-TL1MitochondrialXMELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episode)
PRKAG2ADXCardiac glycogen storage disease, Wolff–Parkinson–White
SLC22A5ARXXPrimary carnitine deficiency
TAZX-linkedXXBarth syndrome
Neuromuscular/neurodegenerative disorders
DMDX-linkedXDuchenne/Becker muscular dystrophy
FRDA1ARXFriedreich ataxia
  • AD indicates autosomal dominant; AR, autosomal recessive; ARVC arrhythmogenic right ventricular cardiomyopathy; CFC, cardiofaciocutaneous; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; NCM, noncompaction cardiomyopathy; and RCM, restrictive cardiomyopathy.