Table 5.
Targeted genetic testing using next-generation sequencing.
| All HCM N = 301 | aHCM N = 80 | sHCM N = 221 | P-value | |
|---|---|---|---|---|
| Testing done, n (%) | 117 (39) | 36 (45) | 81 (36) | 0.23 |
| Negative#, n (%) (of tested patients) | 91 (78) | 34 (94) | 57 (70) | 0.29 |
| Tested patients with family history of HCM, n (%) | 29 (25) | 9 (25) | 20 (25) | 1.00 |
| Tested patients without family history of HCM, n (%) | 88 (75) | 27 (75) | 61 (75) | 1.00 |
| Tested patients with family history of SCD, n (%) | 28 (24) | 11 (31) | 17 (21) | 0.35 |
| Pathogenic or likely pathogenic variants, n (%) (of tested patients) | 26 (22) | 2 (6) | 24 (30) | 0.02 |
| Family history of HCM | 13 (11) | 9 (25) | 20 (25) | 1.00 |
| No family history of HCM | 13 (11) | 27 (75) | 61 (75) | |
| Family history of SCD | 7 (6) | 2 (6) | 5 (6) | 1.00 |
HCM, hypertrophic cardiomyopathy; SCD, sudden cardiac death.
#
Including benign/likely benign variances and variants of unknown significance (VUS) without evidence of pathogenicity after segregation studies.