Table 2 Clinical characteristics and genetic testing results of the HF patients.

From: Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing

Patients

Age/Gender

Family History of SCD

Arrhythmias

Risk Factors

Pacing Mode

Baseline Echocardiography

Duration of HF Onset (months)

Follow-up Echocardiography

Genetic Testing Results

Mutation Prediction

LVEF (%)

LVEDD (mm)

LVEF (%)

LVEDD (mm)

1

39/M

Yes

III AVB, AF

HT

VVI

70

57

28

39

59

LMNA p. Leu379Val

Pathogenic

2

41/M

Yes

III AVB, AF, PVC, VT

None

VVI

63

56

13

31

65

LMNA c.1157 + 1 G > T

Pathogenic

3

57/M

None

III AVB

None

DDD

64

47

12

45.5

58

TTN p. Glu5365Asp; TTN p.Arg3067His

Pathogenic; VUS

4

37/F

None

III AVB

None

DDD

53

62

15

42.5

70

DSP c.1140 + 6 T > C

VUS

5

54/F

None

IIIAVB, PVC, VT, VF

None

DDD

62

55

30

25

64

CACNA1C c.372-9 C > G; CACNA1C c.4074 + 6 C > T

VUS; VUS

6

64/F

Yes

III AVB, AF

HT

DDD

52

52

25

35.6

54

LMNA p. Arg216Cys

Pathogenic

7

39/F

None

III AVB

None

DDD

60

57

6

39

59

DSG2 p. Leu563Arg; AKAP9 c.9358 + 10 A > G

VUS; VUS

8

46/M

None

III AVB, CLBBB

None

DDD

60

55

28

45

59

TTR p. Ser43Asn; DSG2 p. Phe531Cys; CSRP3 p. Gly72Arg

Pathogenic; Pathogenic; Pathogenic

9

60/F

None

III AVB

HT

DDD

63

47

24

28

61

MYH7 p. Glu1902Gln; TTN p. Arg8985Cys

Pathogenic Pathogenic

10

39/M

Yes

III AVB

None

DDD

54

54

8

42

58

MYBPC3 p. Gly507Arg

Pathogenic

  1. AVB, Atrioventricular Block; AF, Atrial Fibrillation; CLBBB, Complete Left Bundle Branch Block; LVEF, Left Ventricular Ejection Fraction; LVEDD, Left Ventricular End Diastolic Dimension; PVC, Premature Ventricular Contraction; HT, Hypertention; SCD, Sudden Cardiac Death; VT, Ventricular Tachycardia; VUS, Variation of Unknown Significance.