Standardization and validation of neoLVOT assessment using three-dimensional trans-esophageal echocardiography before trans-catheter mitral valve replacement.

BACKGROUND: Trans-catheter mitral valve replacement (TMVR) procedures had emerged as an alternative solution for patients who are at high risk for mitral valve surgery. Although cardiac computed tomography (CT) remains the standard method for procedural planning, there is no full agreement on the best systolic phase for quantitation of the neoLVOT. Furthermore, a new three-dimensional trans-esophageal echocardiography (3DTEE) based software was developed to serve as filter and or an alternative for patients who cannot have CT due to any contraindication. AIM: To determine the systolic phase of the cardiac cycle that shows the narrowest NeoLVOT area in order to standardize the way of using these software and then to validate the 3DTEE-based software against the CT-based one as a gold standard, in mitral valve annulus (MA) and NeoLVOT assessment. METHODS: A single center, observational, retrospective study. Initially, a sample of 20 patients (age 62 ± 4 years, 70% men) had CT-based analysis at mid-diastole (80%), early-systole (10%), mid-systole (20%), late-systole (30%-40%), in order to detect the best systolic phase at which the neoLVOT area is the narrowest after TMVR. Then, the end systolic phase was standardized for the analysis of 49 patients (age 57 ± 6 years, 60% men), using both the commercially available CT-based software and the newly available 3DTEE-based software (3mensio Structural Heart, Pie Medical Imaging, The Netherlands). The 3DTEE derived parameters were compared with the gold standard CT-based measurements. RESULTS: The neoLVOT area was significantly narrower at end-systole (224 ± 62 mm2), compared to early-systole (299 ± 70 mm2) and mid-systole (261 ± 75 mm2), (p = .005). Excellent correlation was found between 3DTEE and CT measurements for MA AP diameter (r = .96), IC diameter (r = .92), MA area (r = .96), MA perimeter (r = .94) and NeoLVOT area (r = .96), (all p-values < .0001). Virtual valve sizing was based on annulus measurement and was identical between CT and 3DTEE. Interobserver and intraobserver agreements were excellent for all the measurements with ICCs > .80. CONCLUSIONS: End-systole is the phase that shows the narrowest neoLVOT and hence should be the standard phase used during the analysis. The 3DTEE based analysis using this new software is reliable compared to the CT-based analysis and can be serve as an alternative analysis tool in patients who cannot have CT for any clinical contraindication or as a screening test and/or filter for all patients before proceeding to a detailed CT scan.

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities toward advancements in precision medicine and novel diagnostic technologies. Current reference genomic databases are not representative of the global human population, making variant interpretation challenging, especially in underrepresented populations, such as the North African population. To address this, the Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project launched a study comprising 1000 individuals free of cardiovascular disease (CVD). Here, we present the first 391 Egyptian healthy volunteers recruited to establish a pilot phenotyped control cohort. All individuals underwent detailed clinical investigation, including cardiac magnetic resonance imaging (MRI), and were sequenced using a targeted panel of 174 genes with reported roles in inherited cardiac conditions. We identified 1262 variants in 27 cardiomyopathy genes of which 15.1% were not captured in current global and regional genetic reference databases (here: gnomAD and Great Middle Eastern Variome). The ECCO-GEN project aims at defining the genetic landscape of an understudied population and providing individual-level genetic and phenotypic data to support future studies in CVD and population genetics.