Table 1.
Summary of cardiac diseases caused by pathogenic variants in TTN, FHL1, CSRP3, FLNC and PLN
| Gene/chromosome | Disease | Inheritance pattern | Comments |
|---|---|---|---|
| 2q31.2 TTN |
DCM | AD, variable penetrance | Truncating variants in A-band dominating, common (≤25%) |
| Xq26.3 FHL1 |
HCM | X-linked | With or without skeletal muscle involvement, rare |
| 11p15.1 CSRP3 |
HCM | AD, late onset | Rare; missense variants dominating |
|
FLNC
7q32.1 |
HCM DCM |
AD AD |
Missense variants dominating Truncating variants dominating |
|
PLN
6q22.31 |
DCM HCM |
AD (R9C, ΔR14), AR (L39X) AD |
Rare Rare, L39X and promotor variants |
AR autosomal recessive