Use of advanced echocardiographic modalities to discriminate preclinical HCM mutation carriers from non-carriers

Abstract Background It is a challenging goal to identify which family members of patients with hypertrophic cardiomyopathy (HCM) will subsequently develop HCM. Previous studies evaluating the utility two-dimensional conventional Doppler echocardiography in HCM families known pathogenic variant identified on genetic testing have been unable reliably distinguish preclinical genotype-positive, phenotype-negative (G+P−) individuals from their healthy genotype-negative, (G−P−) relatives. Purpose To determine if advanced echocardiographic modalities can discriminate mutation carriers non-carriers (G−P−). Methods A total 199 participants who had undergone were included study: 39 G−P−; 58 G+P− and 102 overt (G+P+). Speckle tracking (STE) colour M-mode performed all longitudinal, circumferential radial strain, torsion compared. Results Patients highest septal, posterior wall thickness, septum/posterior (Sep/PW) thickness ratio left ventricular outflow tract (LVOT) gradient lowest global tissue Doppler-derived myocardial systolic diastolic velocities. Comparing G−P− individuals, there no significant differences LV cavity size, LVOT gradient, LVEF However, significantly higher peak apical rotation, twist flow propagation velocity (Vp). Multivariate linear regression two independent predictors (peak rotation Vp), equation (using multivariate regression) {Mutation carrier prediction value = (0.210×peak rotation) − (0.002×Vp) + 0.156; r=0.655)} was derived allowed reliable discrimination G+P- sensitivity 95.2% specificity 94.1% at optimal cut-off. Conclusion In without HCM, Vp provide good for identifying may be clinically useful early marker before onset hypertrophy. Future longitudinal involving larger cohorts are required validate these findings. Funding Acknowledgement Type funding sources: None.