Table 1

Clinical details on selected members of the pedigree; individuals can be identified from fig 1

IndividualAge (years) MYO6 Sensorineural hearing lossECGECHO
QTc (ms)Other ECG abnormalities
*II-3 was considered a double phenocopy with presbycusis and cardiac abnormalities consistent with valvar and ischaemic disease.
Prolonged QTc durations are in bold type.
AI, aortic valve incompetence; ECHO, echocardiographic findings; LAH, left atrial hypertrophy; LBBB, left bundle branch block; LVH, left ventricular hypertrophy; MR, mitral valve regurgitation; RAD, right axis deviation; SAM, systolic anterior motion of the mitral valve; 1° HB, first degree atrioventricular block.
II-175MutantYes 581 q wave in lead AVL; LVH; LAH; LBBBApical LVH, SAM, hyperdynamic non-dilated
II-289MutantYes 529 Borderline 1° HBNormal for age
II-3*74wild-typeNo 572 q in lead AVL; LVH; LAH; wide QRS complexMild AI, mod MR, inferior hypokinesia
III-139MutantYes468q in leads III, AVFApical LVH
III-243MutantYes505q in leads II, III, AVR; post hemi block; biphasic t wavesApical LVH, trivial SAM
III-336MutantYes 584 q in lead AVL; LAD; LAH; biphasic t wavesSeptal LVH
III-547MutantYes459Borderline 1° HB; LAHNormal
III-650MutantYes 510 NoneNot available
IV-112MutantNo 509 Borderline QT elevationNormal
IV-310MutantYes447LAH; RAD possibly normal for ageNormal