Background The echocardiographic focus to detect abnormalities in genetically hypertrophic cardiomyopathy (HCM) affected subjects without left ventricular (LV) hypertrophy (G+/LVH-) has been on diastolic abnormalities in transmitral flow and longitudinal myocardial function with tissue Doppler imaging. The aim of this study was to assess diastolic LV unstrain and untwist. Methods and results Forty-one consecutive genotyped family members of HCM patients (mean age 37611 years, 16 men) and 41 ageand gender-matched healthy volunteers underwent speckle-tracking echocardiography to measure untwist and unstrain. No significant differences between G+/LVH- and control subjects were seen in maximal systolic twist and global longitudinal strain. In diastole, the early peak untwist rate was significantly lower in G+/LVH- subjects compared with control subjects (62±19°s-1 vs. 76±30°s-1, P<0.05), whereas the late peak untwist rate tended to be higher. Untwist from maximal twist until the first 20% of diastole was delayed in G+/LVH- subjects (39.3612.9% vs. 51.3±15.6%, P<0.005). Late diastolic unstrain rate was significantly higher in G+/LVH- subjects in the inferoseptal wall (111±33 s-1 vs. 94±32 s-1, P=0.024), the inferolateral wall (105±42 vs. 75±35 s-1, P=0.007) and the anteroseptal wall (97±26 vs. 80±23 s-1, P=0.010). Unstrain from maximal twist until the first 20% of diastole was delayed in G+/LVH- subjects in the inferoseptal (18.9614.0% vs. 30.1±17.7%, P=0.005), inferolateral (27.1±16.3% vs. 39.2±18.0%, P=0.015) and anteroseptal (19.1±14.7% vs. 35.8±18.5%, P=0.0003) segments. Conclusions In mutation carriers, for HCM LV, untwist and unstrain are delayed and untwist rate and unstrain rate are decreased. All rights reserved.

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Keywords Diagnosis, Genetics, Hypertrophic cardiomyopathy, Speckle-tracking echocardiography
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Journal European Heart Journal Cardiovascular Imaging
Kauer, F, van Dalen, B.M, Michels, M, Schinkel, A.F.L, Vletter, W.B, van Slegtenhorst, M.A, … Geleijnse, M.L. (2017). Delayed and decreased LVuntwist and unstrain rate in mutation carriers for hypertrophic cardiomyopathy. European Heart Journal Cardiovascular Imaging, 18(4), 383–389. doi:10.1093/ehjci/jew213