👤 Georgios V Gkoutos

No studies have explored the genetic differences between the Chinese and other ethnic hypertrophic cardiomyopathy (HCM) populations. This cross-sectional study included Chinese patients ( Chinese HCM patients have a higher proportion of rare variants (52.8% vs 13.6%, Our findings suggested that patients of Chinese ancestry with HCM have a higher proportion of rare variants but are less likely to be classified as P/LP variants in HCM genes than those of European origin. The variants of c.3624del in Show less

The phenotype via conventional cardiac MRI analysis of MYH7 (β-myosin heavy chain)- and MYBPC3 (β-myosin-binding protein C)-associated hypertrophic cardiomyopathy (HCM) groups is similar. Few studies exist on the genotypic-phenotypic association as assessed by machine learning in HCM patients. To explore the phenotypic differences based on radiomics analysis of T Prospective observational study. In all, 102 HCM patients with pathogenic, or likely pathogenic mutation, in MYH7 (n = 68) or MYBPC3 (n = 34) genes. Cardiac MRI was performed at 3.0T with balanced steady-state free precession (bSSFP), phase-sensitive inversion recovery (PSIR) late gadolinium enhancement (LGE), and modified Look-Locker inversion recovery (MOLLI) T All patients underwent next-generation sequencing and Sanger genetic sequencing. Left ventricular native T Mann-Whitney U-tests and Student's t-tests were performed to assess differences between subgroups. A receiver operating characteristic (ROC) curve was used to assess the model's ability to stratify patients based on radiomic features. There were no significant differences between MYH7- and MYBPC3-associated HCM subgroups based on traditional native T Radiomic analysis of native T 3 TECHNICAL EFFICACY STAGE: 2 J. MAGN. RESON. IMAGING 2020;52:1714-1721. Show less