Table 1 Clinical characteristics of affected individuals.

From: A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation

Clinical characteristics

ECG

Echocardiogram

ID

Sex

Age

Presentation

Age at AF diagnosis

AF status

Conduction disease

Sinus HR (b.p.m.)

Av. AF rate (b.p.m.)

PR (ms)

QRS (ms)

LVEF (%)

LAVI (ml m−2)

LAFI (%)

II:2

F

53

Palpitations

32

Permanent AF

CHB/PPM

70

40*

—

72

68

40

10

II:3

M

50

Asymptomatic

38

Permanent AF

Uncertain

—

80

—

84

68

38

21

III:1

F

25

Asymptomatic

22

Permanent AF

Uncertain

—

50

—

76

72

25

30

III:2

F

29

Palpitations

25

PAF

1° AVB

65†

55

216

88

67

38

35

III:3

F

32

Palpitations

26

PAF

1° AVB

74

59

336

88

66

33

39

III:5

F

20

Asymptomatic

—

NSR

1° AVB

80

—

200

80

72

24

52

  1. AF, atrial fibrillation; Av.AF rate, average heart rate during AF (determined by ECG over 10 second interval while off medication); AVB, atrial–ventricular block; b.p.m., beats per minute; CHB, complete heart block; ECG, electrocardiography; F, female; HR, heart rate; ID, subject (index) ID; LAFI, left atrial function index (normal 54±17% (ref. 8)); LAVI, left atrial volume index (normal <28 ml m−2, severely enlarged >39 ml m−2); LVEF, left ventricular ejection fraction; M, male; NSR, normal sinus rhythm; PAF, paroxysmal AF; PPM, permanent pacemaker.
  2. *Junctional escape rhythm.
  3. †Profound sinus bradycardia and frequent pauses observed on 48-h ambulatory monitoring.