Developed HCM N=4 (4 families) | No HCM N=34 (23 families) | p Value | |
---|---|---|---|
Causal gene, n | |||
MYH7 | 3 | 18 | |
MYBPC3 | 0 | 12 | |
TNNT2 | 1 | 4 | |
Variant classified as pathogenic, n (%) | 4 (100%) | 27 (79%) | 1.0* |
Variant classified as uncertain significance | 0 | 7 (21%) | |
Penetrance in the family based on clinical screening alone | 0.66 (0.14) | 0.35 (0.033) | 0.006† |
Penetrance in the family based on genotype and clinical screening | 1.00 (0.15) | 0.52 (0.032) | <0.001† |
Number of relatives with myectomy Average/family member | 2 0.063 (0.049) | 15 0.048 (0.014) | 0.76† |
Number of relatives with transplant Average/family member | 1 0.031 (0.038) | 13 0.042 (0.014) | 0.82† |
Number of relatives with Sudden Death Average/family member | 4 0.13 (0.059) | 16 0.052 (0.012) | 0.09† |
Values are listed as mean (SD) or counts, as appropriate.
*Fisher's exact test. †Poisson regression with the number of family members (or the number of genotyped family members) as the exposure.
HCM, hypertrophic cardiomyopathy; MYBPC3, myosin binding protein C; MYH7, myosin heavy chain; TNNT2, troponin T.