Author + information
- 1Department of Ultrasound, Xijing Hospital
- 2Centers for Metabolic Disease Research, Cardiovascular Research, & Thrombosis Research, Departments of Pharmacology, Lewis Katz School of Medicine at Temple University
- 3The Heart Center, St. Christopher's Hospital for Children & Drexel University College of Medicine
- 4Deborah Heart and Lung Center
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disease and a leading cause of identifiable sudden cardiac death (SCD) in the young. Herein, it’s very important to identify mutation carriers in familial of young hypertrophic cardiomyopathy (HCM) before the development of hypertrophy.
We performed a systematic analysis of echocardiography, and 3D-STE in familial young HCM to identify parameters associated with genetic status. From 2011 to 2017, 158 unrelated patients diagnosed with HCM were enrolled in research based genetic testing.
The electronic medical record was reviewed to identify those with HCM diagnosed at 18-30 years (mean age at diagnosis 24.2 ± 6 years, 64% male). We analyzed 120 young spread out in three groups: HCM patients with hypertrophy (LVH+, n = 60), mutation carriers without hypertrophy (LVH2/G+, n = 40), and normal control subjects (n = 58). Several parameters were significantly different in LVH2/G+ compared with controls. Multivariate logistic regression identified only three independent echographic/STE parameters associated with genetic status: the inter-ventricular septum/GLS (P <0.01), GCS (P < 0.01), and GRS (P <0.01). A strain score determined after receiver operating characteristic analysis identified mutation carriers with 67% sensitivity and 96% specificity.
These results suggest LV global 3D systolic strain analysis using the new 3D-STI methodology is feasible and reproducible in obstructive young HCM subjects of Mutation Carriers in Familial in early stage.