PMC6105593_01
a Pedigree and b audiometric configurations of the proband (P). Closed symbols indicate affected individuals. The high frequency hearing thresholds of this patient progressed over the follow-up period and eventually showed flat-type moderate hearing loss
41439_2018_23_Fig1_HTML.jpg
PMC6105593_01_41439_2018_23_Fig1_HTML.jpg
Fig1
His maternal grandmother, mother, maternal uncle, and sister also have late-onset hearing loss (after acquisition of language) (Fig. 1a). The hearing loss was progressive, and an audiogram at age 43 showed hearing loss at all frequencies with a flat pattern (Fig. 1b).
Results of the proband's a electrocardiogram and b echocardiograph. The electrocardiogram revealed a minor abnormality in the Q wave at V1 and V2, while the echocardiography revealed mild mitral valve regurgitation from the left ventricle to the left atrium
41439_2018_23_Fig2_HTML.jpg
PMC6105593_01_41439_2018_23_Fig2_HTML.jpg
Fig2
His electrocardiogram revealed an abnormal Q wave at V1 and V2 (Fig. 2a); however, the cardiologist evaluated it to be within the normal range. Echocardiography revealed mild mitral valve regurgitation from the left ventricle to the left atrium (Fig. 2b), but this was judged not to affect cardiac function.