Skip to main content

Table 1 Parameters of systolic and diastolic function from transthoracic echocardiography from members of a family affected by DCM with the TNNT2 R205Q variant

From: Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin

 

Proband

Brother

Sister

Sister

Father

Mother

II-3

II-1

II-4

II-2

I-1

I-2

Age at Time of Screening (years)

4

2

8

3

36

34

Presence of R205Q variant

Yes

Yes

Yes

No

Yes

No

Ejection Fraction (%)

13

47

37

64

38

57

LVIDd (cm)

6.6

4.4

6.4

3.7

5.1

4.5

Mitral Valve E/A

1.73

1.9

2.9

1.8

1.4

1.9

Lateral E’ velocity (cm s−1)

10

26

22

16

15.7

12

Lateral A’ velocity (cm s−1)

3

6

6

5

9.7

7

  1. LVIDd = left ventricular internal dimension in diastole