Early Detection of Genetic Cardiomyopathies in Relatives | 143 Global deformation parameters Regional deformation parameters Control group Main result(s) GLS, average basal, mid and apical longitudinal strain LV basal anteroseptal longitudinal strain 110 volunteers with normal physical examination, normal ECG and LVEF ≥50% GLS increased in mutation carriers (P<0.001), but not associated with development of HCM phenotype during followup (5.6 ± 2.9 years) GLS none 80 healthy volunteers GLS reduced in mutation carriers (P=0.001) GLS, GLS rate, GCS, GRS LV septal, lateral, inferior and anterior longitudinal strain and strain rate (averaged over wall) 38 genotype-negative relatives No significant differences between genotypepositive and genotypenegative relatives. GLS reduced in relatives with MYBPC3 variant compared to MYH7 (P<0.001) GLS, GLS rate, GCS (multilayer), global mechanical synchrony index, rotation, twist none 60 healthy subjects without family history of HCM and normal echocardiogram Enhanced circumferential systolic function (P<0.001), increased twist (P<0.001) and more myocardial dyssynchrony (P<0.001) in relatives GLS Longitudinal strain in 17 LV segments 49 genotype-negative relatives and healthy volunteers with no history of cardiovascular disease and normal echocardiography (21 in derivation cohort, 28 in validation cohort) Regional strain reduced in genotype-positive relatives in basal anteroseptal wall and basal inferoseptal wall (P=0.035 and P=0.002 in validation cohort) GLS, GCS, GRS LV basal anteroseptal and basal posterior peak longitudinal systolic strain 25 subjects referred for atypical chest pain, palpitations or syncope with normal echo Basal anteroseptal longitudinal strain reduced in relatives (P<0.01) Twist, twist rate, untwist, untwist rate, unstrain, unstrain rate LV inferoseptal, anterolateral, inferolateral and anteroseptal unstrain, unstrain rate and longitudinal strain (averaged over wall) 41 healthy, non-obese volunteers, with normal LA/LV volumes and function, and normal ECG Early diastolic untwist rate reduced in relatives (P<0.05), untwist delayed (P<0.005). Late diastolic unstrain rate increased and delayed in all walls, except for anterolateral wall 7
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