Skip to main content

Advertisement

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

From: A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Individual Age (yrs) Echocardiogram EF LVDd FS
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 %