Table 1.
Gene | Molecular Function | Mutation Types in PPCM | Other Associated Disorders |
---|---|---|---|
BAG3 | Co-chaperone, Z disk | Truncating | DCM, MFM |
DMD | Sarcolemma, structure | Truncating | DCM, MD |
DSP | Desmosome, cell–cell adhesion |
Truncating | ACM, DCM, keratodermas |
FKTN | May process dystrophin | Truncating/missense | DCM, MD |
GNB3 | G protein subunit | Association with outcome | Hypertension, night blindness |
KCNH2 | K+ channel, cardiac conduction |
Truncating | Long QT syndrome |
LAMP2 | Lysosome, autophagy | Truncating/missense | Danon disease, DCM, HCM |
LMNA | Nuclear lamina, structure | Truncating | DCM, MD |
MYBPC3 | Sarcomere, cardiac contraction |
Missense | DCM, HCM, LVNC |
MYH6 | Sarcomere, cardiac contraction |
Truncating/missense | CHD, DCM, HCM |
MYH7 | Sarcomere, cardiac contraction |
Missense | DCM, HCM, LVNC, MD |
PSEN2 | May regulate APP processing | Missense | Alzheimer’s disease, DCM |
PTHLH | Hormone | Association with risk | Brachydactyly |
RET | Protooncogene | Missense | Multiple endocrine neoplasia |
SCN5A | NA+ channel, cardiac conduction |
Missense | AF, DCM, Long QT syndrome, VF |
SYNM | Cytoskeleton | Truncating | - |
TNNC1 | Sarcomere, cardiac contraction |
Missense | DCM, HCM |
TNNT2 | Sarcomere, cardiac contraction |
Missense | DCM, HCM, LVNC, RCM |
TPM1 | Sarcomere, cardiac contraction |
Truncating | DCM, HCM, LVNC |
TTN | Sarcomere, cardiac contraction |
Truncating | DCM, HCM, MD, MFM |
VCL | Cytoskeleton | Truncating | DCM, HCM |
ACM, arrhythmogenic cardiomyopathy; AF, atrial fibrillation; APP, amyloid precursor protein; CHD, congenital heart disease; DCM, dilated cardiomyopathy, HCM, hypertrophic cardiomyopathy; HSP, heat shock protein; LVNC, left ventricular noncompaction; MD, muscular dystrophy; MFM, myofibrillar myopathy; RCM, restrictive cardiomyopathy; VF, ventricular fibrillation.