Introduction Hypertrophic cardiomyopathy (HCM) is the most common hereditary cardiomyopathy in the general population. As genetic testing is recommended in every HCM patient, it is becoming a challenge to the healthcare system, as it is costly and capacities at genetic institutes are limited. However, a positive genotype can only be identified in approximately 40% of HCM patients. Thus, novel parameters to improve the diagnostic yield of genetic testing in HCM are warranted. In this multicenter study, we aimed to investigate whether echocardiography-derived left ventricular global longitudinal strain (LV GLS), a surrogate of myocardial fibrosis, independently predicts a positive HCM genotype. Methods We performed a cross-sectional analysis including HCM patients with availability of genetic testing results and stored echocardiographic loops from two Austrian HCM registries. Patient characteristics were assessed by medical chart review and individual phone calls. Echocardiographic measurements were performed in post-processing analysis by a blinded investigator. Associations between LV GLS and genotype were analysed in univariate and multivariate binary regression analysis, with adjustment for parameters that were associated with a positive genotype in previous studies. Results Among 125 patients with HCM, a positive genotype was detected in 39%. Worse LV GLS was associated with a positive genotype in univariate analysis (Odds Ratio [OR] 95% CI 1.141, 1.018–1.279, p=0.023). In multivariate regression analysis adjusted for known genotype predictors (age at diagnosis
Myocardial deformation analysis to improve diagnostic yield of genetic testing in Hypertrophic Cardiomyopathy
Santner, V. (Autor/-in). 2026
Studienabschlussarbeit: Dissertation