Table 5.
An overview of previous studies on the relationship between SV/NSV and phenotype in LVNC patients
Study | Study population | Genetic testing | Prevalence | Relationship with phenotype |
---|---|---|---|---|
Sarcomere variants | ||||
Probst et al., 2011 | 63 European probands (adults and children) | 8 genes | 18/63 (29%) with mutated MYH7, MYBPC3, ACTC1, TNNT2, or TPM1 | No significant differences in average age, cardiac function, and heart failure or tachyarrhythmias at baseline or follow‐up between carriers and noncarriers |
Tian et al., 2015 | 57 Chinese probands (adults and children) | 10 genes | 7/57 (12%) with mutated MYH7, ACTC1, TNNT2, or TPM1 | No significant differences in clinical characteristics at baseline and mortality during follow‐up between carriers and noncarriers |
van Waning et al., 2018 | 327 European probands (adults and children) | 45 genes | 85/327 (26%) with mutated MYH7, MYBPC3, TTN, ACTC1, ACTN2, TNNC1, TNNT2, MYL2, or TPM1 | No significant differences in adverse events at baseline or follow‐up between carriers and noncarriers |
Nonsarcomere variants | ||||
van Waning et al., 2018 | 327 European probands (adults and children) | 45 genes | 19/327 (6%) with mutated DES, DSP, FKTN, HCN4, KCNQ1, LAMP2, LMNA, MIB1, NOTCH1, PLN, RYR2, SCN5A, or TAZ | No significant differences in adverse events at baseline or follow‐up between carriers and noncarriers |