Table 3 Clinical information on the TTNtv and DSC2 loss-of-function carriers in the AF families

From: Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Family

Pedigree ID

Sex

AF onset age

Age

Comorbidities/risk factors for AFa

ECHO, at AF diagnosis or earliest available

ECHO, latest available

      

LVDD (mm)

LA (mm)

LVEF(%)

Years from AF diagnosis

LVDD (mm)

LA (mm)

LVEF(%)

Years from AF diagnosis

E003

II-2

M

42

62

 

Nb

Sdb

40–45c

16

Nb

40

55

18

E003

II-5

F

58

71

HTN, HT

Nb

45

Nb

4

Nb

Sdb

Nb

10

E003

III-4

M

37

47

NIDCM

67

57

15

0

70

56

30–35

8

M1023

II-4

F

63

71

 

Nb

Nb

35c

0

60

32

25c

7

M1023

III-1

M

40

50

NIDCM

67–71

51

20

3

54

44

43c

11

M1023

III-3

F

25

52

 

49

38

66

22

56

44

25c

27

M1018

III-1

M

65

69

Multid

Sdb

Sdb

Nb

0

Mild CLVHb

Db

60

3

M1018

IV-2

M

28

38

HTN

Nb

Nb

Nb

0

Nb

Nb

Nb

0

M1018

IV-3

M

31

40

 

Nb

34

Nb

0

Nb

Nb

60

7

M1039

III-2

M

23

50

 

Nb

Nb

Nb

16

55

Nb

60

24

M1039

III-3

M

39

51

NIDCM

Sdb

N.A.

30c

5

Moderat Db

Nb

50–55

8

M1039

III-5

M

25

37

 

Nb

Nb

Nb

9

Nb

Nb

60

11

M1030

III-4

M

49

63

HCL

Nb

Db

Nb

0

Nb

Db

Nb

0

M1030

III-7

F

50

72

 

Mild H

Mild Db

Nb

10

Mild H

Mild Db

Nb

0

M1030

IV-5

M

41

46

 

52

43

Nb

0

52

43

Nb

0

  1. AF:  atrial fibrillation, LVDD:   left ventricular diastolic diameter, LA:  left atrial diameter, LVEF(%):  left ventricular ejection fraction (%), D:   dilated, H:  hypertrophy, HT:  hyperthyroidism, HTN:  hypertension, HCL:  hypercholesterolemia, NIDCM: nonischemic dilated cardiomyopathy, M/F:  male/female, N:  normal, Sd:  severely dilated, CLVH:  concentric left ventricular hypertrophy, TTN:  titin, TTNtv:  titin-truncating variants, DSC2:  desmocollin 2, N.A.:  not available, ECHO: echocardiography
  2. aDiagnosed before or within 12 months after the AF diagnosis
  3. bExact values not provided
  4. cDuring AF
  5. dHypertension, stroke, aortic-, and mitral prolapse and regurgitation (biological aortic valve and mitral valve repair), dilated LV