Table 1 Echocardiographic findings of the four affected individuals. EF: ejection fraction; FS: fractional shortening; LV: left ventricle; LVDd: left ventricular diastolic diameter; MR: mitral regurgitation; RV: right ventricle; TR: tricuspid regurgitation; yrs: years

IV:2

26

severely dilated LV. severely reduced LV systolic function. moderate MR.

12.5 %

63

7.8 %

IV:3

22

moderately dilated LV. severely reduced LV systolic function. trace MR.

25 %

57

15.8 %

IV:5

20

moderately dilated LV. severely reduced LV systolic function. moderate MR.

25 %

59

16.9 %

IV:6

14

severely dilated LV and RV. severely reduced LV and RV systolic function. severe MR and TR

15 %

71

5.6 %