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Table 2 Clinical characteristics of mutation carriers

From: Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

No.*

Indiv.

Sex

Age

Age at first presentation (Diagnosis)

ECG***

Echo

MRI

      

MWT (mm)

LVEF

MWT (mm)

LVEF (%)

Late enhancement

1

II-3§

m

56

49 (HCM)

SR, CV

28

n

27

60

mid-, inferoseptal and inferior basal

 

II-9

m

55

53 (HCM)

AF, LBBB

30

n-↓

33

51

massive septal, anterior, inferior

2

II-1§

m

55

55 (HCM)

pxAF

24

n

   
 

III-1

f

30

30|| (HCM)

SR

15

n

   

3

SP#

m

71

67 (HCM)

AF

20

n-↓

   

4

SP#

m

48

46 (HCM)

SR, CV, iLBBB

25

   

5

I-2

f

85

n.a. (-)

AF

11

n

   
 

II-2§

m

65

62 (DCM)

SR, CV

15††

n

12.5

72‡‡

discrete septal (mid and basal)

 

II-6

f

55

55|| (-)

SR

10

n

< 11

65

none

 

III-2

m

38

38 (susp.)

SR

14††

n

< 11

62§S

none

6

II-2

f

68

n.a. (HCM)

SR

n.a.

    
 

III-1§

m

39

18 (HCM)

SR

n.a.

    

7

SP#

f

52

45 (HCM)

SR, CV

n.a.

n

   

8

I-2

f

71

69|| (HCM)

SR

20

n

   
 

II-1§

m

49

35 (HCM)

SR, AVB1, pxAF

25

26

71

n.a.

9

SP#

f

66

44 (HCM)

SR, pxAF

24

n

   

10

SP#

m

54

54 (HCM)

SR

22

n

   

11

II-3

m

66

66|| (HCM)

AF

20

n

   
 

II-6§

f

62

54 (HCM)

SR

22

n-↓

   

12

II-6

m

67

67|| (susp.)

SR, LAHB

12

n

   
 

III-1

m

46

42|| (HCM)

SR

14

n

21

54

massive intramural basal- and mid-septal

 

III-3§

m

42

37 (HCM)

SR

30

n

   
 

IV-4

f

20

20|| (HCM)

SR

14

n

14

77

none

 

IV-5

f

14

14|| (susp.)

SR

13

n

11

66

none

13

II-1

m

54

54 (HCM)

SR

13

n

   
 

II-6§

m

42

21 (HCM)

SR

27

   

14

II-2§

f

61

57 (HCM)

SR

14||

n

   
 

II-5

m

55

55|| (HCM)

SR

18

n

20

74

mid and basal septal

15

SP#

m

49

49 (HCM)

SR

19

n

24

62

anteroseptal basal

16

II-3§

m

66##

57 (DCM)

AF

n.a.##

↓↓↓##

   
 

II-5

m

65

34 (DCM)

AF, LBBB

12

↓↓↓

   
 

III-3

m

42

18 (HCM)

SR

15

n

22

67

intense septal

 

III-6

f

40

40|| (HCM)

SR

15

n

   
 

III-7

f

39

39|| (HCM)

SR

15

n

14.5

72

septal, inferoseptal basal

 

III-9

f

44

44|| (HCM)

SR, iLBBB

16

n

22

71

midseptal and inferoseptal basal

17

II-3§

m

72

n.a. (HCM)

AF, RBBB

16

n

   
 

III-6

m

48

n.a. (HCM)

SR

24

n

   
 

III-8

f

43

43|| (HCM)

SR

10

n

13.5

65

discrete basal-septal

 

III-9

m

42

42|| (HCM)

SR

18

n

   
 

IV-2

m

17

17|| (susp.)

SR

12

n

   

18

II-4§

f

37

27 (HCM)

SR

23

n

24

66

massive intramural basal- and mid-septal

 

III-5

m

15

15|| (susp.)

SR

12

n

   
  1. *Number of family or single patient (SP); MWT: maximum wall thickness; Left ventricular ejection fraction (n: normal; ↓: mildly reduced, ↓↓↓: severely reduced); §Index patient; ||First presentation due to screening program; #single patient; **n.a.: not available; ††marked trabeculation; ‡‡ End diastolic volume 205 ml, EDV index 94.9 ml/m2 (reference value 47–92 ml/m2); §§ End diastolic volume 212 ml, EDV index 98.1 ml/m2; || ||4 years after transcoronary ablation of septal hypertrophy; ##heart transplantation with 58 years; ***ECG: electrocardiogram; SR: sinus rhythm; CV: status after electrical cardioversion due to atrial fibrillation; AF: atrial fibrillation; pxAF: paroxysmal AF; LBBB: left bundle branch block; iLBBB: incomplete LBBB; AVB1: first degree atrio-ventricular block; LAHB: left-anterior hemiblock; RBBB: right bundle branch block