No abstract

No abstract

No abstract

Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.

No abstract

No abstract

Purpose To determine the variability in CT measurements of proximal thoracic aortic diameters obtained using double-oblique short axis and semiautomatic centerline analysis techniques. Methods Institutional review board approval, with waiver of informed consent, was obtained for this HIPAA-compliant, retrospective study. Cardiac gated thoracic aortic CT scans were evaluated in 25 patients. Maximum aortic diameter measurements at the annulus, sinuses, sinotubular junction and ascending aorta were generated using double-oblique short axis and semiautomatic centerline analysis techniques. Intraobserver and interobserver variability and variability between techniques were assessed using the Wilcoxon signed rank test, Spearman’s correlation coefficients and Bland-Altman plots. Results Mean intraobserver diameter differences using double oblique views ranged from −0.3 – 0.6 mm. The 95% confidence interval for difference in diameters was ±2.4 – ±5.1 mm for radiologist #1 and ±2.6 – ±5.2 mm for radiologist #2, depending on location. Mean intraobserver diameter differences using centerline analysis ranged from 0.2 – 2.3 mm, and the 95% confidence interval for difference in diameters was ±2.0 – ±4.6 mm, depending on location. Significant interobserver differences were seen for both double oblique views and centerline analysis. Measurements obtained using the two methods were strongly correlated (r = 0.81 – 0.99), although they were consistently larger using centerline analysis (95% confidence interval, ±1.8 – ±3.2 mm). Conclusions Although measurement variability of the proximal thoracic aorta was generally low using double oblique and centerline analysis techniques, differences of up to approximately 5 mm in diameter occurred within the 95% confidence interval. Neither technique was clearly more reliable than the other.

No abstract