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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