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Table 1 Comparison of clinical and echo-Doppler findings between the sarcomere gene mutation group and the non-mutation group

From: Effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in patients with hypertrophic cardiomyopathy

  All HCM   Absence of pathogenic/likely pathogenic sarcomere gene mutation group  
  Presence of sarcomere gene mutation group (n = 41) Absence of sarcomere gene mutation group (n = 92) P Sarcomere
VUS (n = 32)
Absence of sarcomere VUS (n = 60) P
Age, years 55.9 ± 13.5 59.6 ± 12.8 0.137 60.0 ± 12.5 59.4 ± 13.1 0.807
Women, n (%) 16 (39) 19 (21) 0.026 8 (25) 11 (18) 0.589
Hypertension, n (%) 281 (51) 39 (42) 0.345 15 (47) 24 (40) 0.658
Diabetes, n (%) 7 (17) 19 (21) 0.631 7 (22) 12 (20) > 0.999
Persistent AF at echo, n (%) 9 (22) 7 (8) 0.019 3 (9) 4 (7) 0.691
Apical HCM, n (%) 13 (32) 53 (58) 0.006 14 (44) 39 (65) 0.076
Dynamic obstruction, n (%) 7 (17) 27 (29) 0.134 10 (31) 17 (28) 0.813
LA volume index, mL/m2 41.2 ± 17.6 32.4 ± 11.3 0.005 35.2 ± 12.8 31.0 ± 10.2 0.109
Echo Doppler E/e’ 15.4 ± 7.3 14.6 ± 5.3 0.454 16.3 ± 5.6 13.7 ± 5.0 0.036
Maximal thickness, mm 19.9 ± 3.7 18.4 ± 3.6 0.032 18.5 ± 3.3 18.4 ± 3.8 0.911
5-year SCD risk (n = 83), % 2.8 ± 1.5 1.9 ± 1.8 0.029 2.4 ± 3.0 1.7 ± 0.6 0.214
  1. AF atrial fibrillation, HCM hypertrophic cardiomyopathy, E early diastolic transmitral inflow velocity, e’ early diastolic mitral annular velocity, LA left atrial, SCD sudden cardiac death, VUS variant uncertain significance