Table 1 Clinical and echocardiographic characteristics of female patients with FD cardiomyopathy

Age

38 ± 3

51.4 ± 6.7

60.3 ± 9.6

63.0 ± 5.6

Cardiac symptoms

Angina,%

0

33

63

33

Dyspnea,%

0

67

87

100

Palpitation, %

100

100

100

100

Ecocardiography

Maximal wall thickness, mm

9.03 ± 0.5

13.3 ± 1.5

17.1 ± 1.2

21.0 ± 1.7

Left ventricular ejection fraction,%

65 ± 7

66 ± 3

64 ± 3

62 ± 5

E/A ratio

1.2. ± 0.4

1. ± 0.4

0.9 ± 0.7

0.9 ± 0.3

Morphometry

Percent of non affected cardiomyocytes

30.5 ± 4.2

32.4 ± 12.5

32.8 ± 9.6

32.7 ± 3.3

Diameter of non affected cardiomyocytes, micron

13.3 ± 3.3

21.0 ± 2.5

26.5 ± 2.5

33.7 ± 3.4

Diameter of affected cells, micron

26.2 ± 9.1

37.8 ± 18.6

43.3 ± 20.1

51.7 ± 14.9

Percent area occupied by vacuoles

56.6 ± 65.7

62.2 ± 69.5

65.2 ± 72.8

67.1 ± 58.9

Fibrosis, %

2.4 ± 5.7

8.3 ± 12.7

14.4 ± 19.0

17.0 ± 5.3

Genetic

c.680G > A,

c.335G > A,

c.668G < A

c.680G > A,

cN46delG, c.548G > G, c.666delC, c.901C > G,

c.644A > G

c.C835C > A, c668G < A,

c547 + 1G > A,

c.644A > G

c.679C > T,

c.335G > A,

c.644A > G