2 research outputs found
Functional myocardial assessment in cine cardiac computerized tomographic angiography using echocardiographic feature-tracking software in patients with and without significant coronary disease
No full textIntroduction: Cardiac computerized tomographic angiography (CCTA) is perceived as a non-invasive tool for assessment of coronary vessel anatomy. Feature tracking echocardiography has recently emerged as a tool for assessment of regional and global left ventricular function. We aimed to explore the applicability of echocardiographic strain on CCTA cine clips and assess whether global and regional strain parameters are associated with the extent of coronary stenosis. Methods: CCTA studies of 61 consecutive patients were reconstructed to yield cine images in classic echocardiographic long and short views. Siemens Velocity Vector Imaging (VVI) software was applied to generate strain and displacement results. Volumetric and mechanics parameters were compared among patients with no or non-significant coronary artery disease (CAD) and patients with significant CAD. Finally, a comparison of the degree of coronary stenosis to regional segmental strain was performed. Results: Myocardial mechanics parameters could be generated in 60 cases. Ejection fraction (EF) and left ventricular end diastolic volume (LVEDV) were within the normal range in both groups. VVI values were lower in the CAD group (VVI LVEF 59 ± 6 vs. 50 ± 11, p = 0.0002). Global longitudinal and global circumferential strain both were significantly lower in this group. Regional segmental strain was lower in segments affected by coronary stenosis in comparison to unaffected segments. Conclusion: While CT segmentation derived LVEF did not differ among groups, patients with significant coronary stenosis had reduced longitudinal and circumferential contraction. This suggests that application of VVI to CCTA cine clips tracking may help to differentiate significant and non-significant coronary stenosis, adding functional value to anatomic findings in CCTA
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
No full textThe blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, including four fetuses, from eight unrelated families associated with homozygous loss-of-function variant alleles of ESAM which encodes an endothelial cell adhesion molecule. The c.115del (p.Arg39Glyfs∗33) variant, identified in six individuals from four independent families of Southeastern Anatolia, severely impaired the in vitro tubulogenic process of endothelial colony-forming cells, recapitulating previous evidence in null mice, and caused lack of ESAM expression in the capillary endothelial cells of damaged brain. Affected individuals with bi-allelic ESAM variants showed profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses. Phenotypic traits observed in individuals with bi-allelic ESAM variants overlap very closely with other known conditions characterized by endothelial dysfunction due to mutation of genes encoding tight junction molecules. Our findings emphasize the role of brain endothelial dysfunction in NDDs and contribute to the expansion of an emerging group of diseases that we propose to rename as “tightjunctionopathies.
