Maha Elmansy

Bio: Maha Elmansy is an academic researcher. The author has contributed to research in topics: Computed tomography angiography & Scimitar syndrome. The author has an hindex of 2, co-authored 4 publications receiving 30 citations.

Computed Tomography Angiography and Magnetic Resonance Angiography of Congenital Anomalies of Pulmonary Veins.

Abstract: We aimed to review computed tomography and magnetic resonance angiography of congenital anomalies of pulmonary veins. Total anomalous pulmonary venous return shows all pulmonary veins drain abnormally in another site rather than left atrium. Imaging can detect anomalous veins either supracardiac, infracardiac, or mixed. Partial anomalous pulmonary venous return shows some pulmonary vein have abnormal drainage that well delineated with computed tomography angiography. Scimitar syndrome is a type of partial anomalous pulmonary venous return where the pulmonary veins of the right lung drain infracardiac and is associated with right lung hypoplasia and dextrocardia. Pseudoscimitar show anomalous vein that takes a tortuous course and drains into the left atrium producing a false-positive scimitar sign. Cor triatriatum shows septum divide left atrium with proximal chamber receives blood flow from the pulmonary veins. Levoatriocardinal vein is an anomalous connection between the left atrium and anomalous vein from systemic venous system that is embryo logically derived from the cardinal veins. Computed tomography angiography can detect pulmonary vein stenosis, atresia, hypoplasia, and varix. Imaging is important for intimal diagnosis and detects the anomalous vessels and its connection, presence of stenosis, and associated other congenital cardiac anomalies. Also, it is a great role in assessment of patients after surgery.

Imaging of Pulmonary Atresia With Ventricular Septal Defect.

Abstract: The aim of this article was to review computed tomography angiography and magnetic resonance angiography of pulmonary atresia with ventricular septal defect. This disorder is a rare complex congenital heart disease. Preoperative imaging of pulmonary atresia with ventricular septal defect with computed tomography angiography and magnetic resonance angiography is important for complete anatomical delineation and planning for treatment. Preoperative imaging used for assessment of the main pulmonary artery (its size, valve, and confluence), aortopulmonary collaterals (its origin, insertion, course, and size), presence of patent ductus arteriosus, other sources of collaterals as bronchial and coronary arteries, and pattern of pulmonary arborization. Imaging can detect associated aortic, pulmonary venous and coronary anomalies, and other congenital heart disease. Postoperative imaging after unifocalization and stent is for assessment of patency, stenosis, and occlusion of stent or perivascular lesions as seroma.

Imaging of Pulmonary Atresia With Ventricular Septal Defect.

Abstract: The aim of this article was to review computed tomography angiography and magnetic resonance angiography of pulmonary atresia with ventricular septal defect. This disorder is a rare complex congenital heart disease. Preoperative imaging of pulmonary atresia with ventricular septal defect with computed tomography angiography and magnetic resonance angiography is important for complete anatomical delineation and planning for treatment. Preoperative imaging used for assessment of the main pulmonary artery (its size, valve, and confluence), aortopulmonary collaterals (its origin, insertion, course, and size), presence of patent ductus arteriosus, other sources of collaterals as bronchial and coronary arteries, and pattern of pulmonary arborization. Imaging can detect associated aortic, pulmonary venous and coronary anomalies, and other congenital heart disease. Postoperative imaging after unifocalization and stent is for assessment of patency, stenosis, and occlusion of stent or perivascular lesions as seroma.

Peripheral Vascular Anomalies - Essentials in Periinterventional Imaging.

Abstract: Background Peripheral vascular anomalies represent a rare disease with an underlying congenital mesenchymal and angiogenetic disorder. Vascular anomalies are subdivided into vascular tumors and vascular malformations. Both entities include characteristic features and flow dynamics. Symptoms can occur in infancy and adulthood. Vascular anomalies may be accompanied by characteristic clinical findings which facilitate disease classification. The role of periinterventional imaging is to confirm the clinically suspected diagnosis, taking into account the extent and location of the vascular anomaly for the purpose of treatment planning. Method In accordance with the International Society for the Study of Vascular Anomalies (ISSVA), vascular anomalies are mainly categorized as slow-flow and fast-flow lesions. Based on the diagnosis and flow dynamics of the vascular anomaly, the recommended periinterventional imaging is described, ranging from ultrasonography and plain radiography to dedicated ultrafast CT and MRI protocols, percutaneous phlebography and transcatheter angiography. Each vascular anomaly requires dedicated imaging. Differentiation between slow-flow and fast-flow vascular anomalies facilitates selection of the appropriate imaging modality or a combination of diagnostic tools. Results Slow-flow congenital vascular anomalies mainly include venous and lymphatic or combined malformations. Ultrasound and MRI and especially MR-venography are essential for periinterventional imaging. Arteriovenous malformations are fast-flow vascular anomalies. They should be imaged with dedicated MR protocols, especially when extensive. CT with 4D perfusion imaging as well as time-resolved 3D MR-A allow multiplanar perfusion-based assessment of the multiple arterial inflow and venous drainage vessels of arterio-venous malformations. These imaging tools should be subject to intervention planning, as they can reduce procedure time significantly. Fast-flow vascular tumors like hemangiomas should be worked up with ultrasound, including color-coded duplex sonography, MRI and transcatheter angiography in case of a therapeutic approach. In combined malformation syndromes, radiological imaging has to be adapted according to the dominant underlying vessels and their flow dynamics. Conclusion Guide to evaluation of flow dynamics in peripheral vascular anomalies, involving vascular malformations and vascular tumors with the intention to facilitate selection of periinterventional imaging modalities and diagnostic and therapeutic approach to vascular anomalies. Key Points: Citation Format

Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation.

Abstract: Background TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Although the haploinsufficiency of TBX1 in both mice and humans results in congenital cardiac malformations, little has been elucidated about its upstream regulation. We aimed to explore the transcriptional regulation and dysregulation of TBX1. Methods Different TBX1 promoter reporters were constructed. Luciferase assays and electrophoretic mobility shift assays (EMSAs) were used to identify a cis-regulatory element within the TBX1 promoter region and its trans-acting factor. The expression of proteins was identified by immunohistochemistry and immunofluorescence. Variants in the cis-regulatory element were screened in conotruncal defect (CTD) patients. In vitro functional assays were performed to show the effects of the variants found in CTD patients on the transactivation of TBX1. Results We identified a cis-regulatory element within intron 1 of TBX1 that was found to be responsive to GATA6 (GATA binding protein 6), a transcription factor crucial for cardiogenesis. The expression patterns of GATA6 and TBX1 overlapped in the pharyngeal arches of human embryos. Transfection experiments and EMSA indicated that GATA6 could activate the transcription of TBX1 by directly binding with its GATA cis-regulatory element in vitro. Furthermore, sequencing analyses of 195 sporadic CTD patients without the 22q11.2 deletion or duplication identified 3 variants (NC_000022.11:g.19756832C > G, NC_000022.11:g.19756845C > T, and NC_000022.11:g. 19756902G > T) in the non-coding cis-regulatory element of TBX1. Luciferase assays showed that all 3 variants led to reduced transcription of TBX1 when incubated with GATA6. Conclusions Our findings showed that TBX1 might be a direct transcriptional target of GATA6, and variants in the non-coding cis-regulatory element of TBX1 disrupted GATA6-mediated transactivation.

Essential role of cardiac computed tomography for surgical decision making in children with total anomalous pulmonary venous connection and single ventricle

Abstract: Total anomalous pulmonary venous connection (TAPVC) is a major risk factor in infants with single ventricle (SV). Exact definition of TAPVC anatomy is crucial for surgical planning.

International journal of cardiology congenital heart disease the ACHD multi-modality imaging series: Imaging of atrial septal defects in adulthood

Abstract: Multimodality imaging in cardiology, and particularly congenital heart disease, has evolved into a critical tool, essential for clinical decision-making and management. Understanding the strengths and weaknesses of each imaging modality allows for timely and accurate diagnosis, enables their complementary use in answering specific clinical questions, facilitates management and prevents overuse of cardiovascular imaging ensuring the most appropriate and cost-effective diagnostic strategy for each patient. We provide herewith an expert consensus on the role of different cardiovascular imaging modalities in the assessment of the atrial septal defect and its haemodynamic consequences in adults, highlighting each modality's strengths and weaknesses, and clarifying how they are best applied in various clinical settings.