Table 1 Gene mutations in sarcomere-related genes in HCM.
From: Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies
Gene | Protein | Frequency (%) |
|---|---|---|
MYH7 | Cardiac myosin heavy chain beta | 30–50 |
MYBPC3 | Myosin binding protein C | 20–40 |
TNNT2 | Cardiac troponin T | 5–20 |
TNNI3 | Cardiac troponin I | <5 |
TPM1 | α-tropomyosin | <5 |
MYL2 | Cardiac myosin light chain 2, regulatory | <3 |
MYL3 | Cardiac myosin light chain 3, essential | <1 |
ACTC | Cardiac actin | <1 |
TTN | Titin | rare |
MYH6 | α-myosin heavy chain | rare |