A child of Williams-Beuren syndrome for inguinal hernia repair: Perioperative management concerns
Williams-Beuren syndrome, commonly known as Williams syndrome (WS), is a multi-organ disorder. The principal anomalies of the syndrome are developmental delay, unusual craniofacial dysmorphic features, and cardiovascular anomalies such as valvular or ...
Sangeeta Deka+4 more
doaj +1 more source
A Case of William’s Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting
Background: Williams–Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile.
Massimo Mapelli+5 more
doaj +1 more source
Abstract Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide. While both genetic and environmental factors significantly contribute to the pathogenesis of CVDs, recent advancements in genetic technology have further emphasized the significance of genetic factors in CVDs.
Niloofar Naderi+3 more
wiley +1 more source
Cardiac outcomes in adults with supravalvar aortic stenosis [PDF]
Aims Supravalvar aortic stenosis is a rare form of left ventricular outflow tract obstruction that is often progressive in childhood. Little data are available on outcomes in the adult population.
Beauchesne, Luc+13 more
core
Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome [PDF]
Transparency document related to this article can be found online at http://dx.doi.org/10.1016/j.bbrc.2015.10.014Induced pluripotent stem cells (iPSCs) represent today an invaluable tool to create disease cell models for modeling and drug screening ...
Ferreira, L.+3 more
core +1 more source
ObjectiveWhile aneurysm of the aortic root, interrupted aortic arch, and aortic coarctation are the most frequent aortic diseases in adolescents and younger adults, there are a number of rare pathologies of the thoracic aorta that need individualized ...
Thierry Carrel+10 more
doaj +1 more source
Progress of Congenital Heart Disease: The Team Approach as It Includes the Anesthesiologist [PDF]
Advances in cardiac surgery have been great in the last 30 years, but further progress is anticipated, especially in infants. A cooperative effort involving referring physicians, pediatric cardiologists, physiologists, anesthesiologists, surgeons, and ...
McCue, Carolyn M.
core +1 more source
Myocardial proteome changes in aortic stenosis rats subjected to long‐term aerobic exercise
Abstract The effects of exercise training (ET) on the heart of aortic stenosis (AS) rats are controversial and the mechanisms involved in alterations induced by ET have been poorly clarified. In this study, we analyzed the myocardial proteome to identify proteins modulated by moderate‐intensity aerobic ET in rats with chronic supravalvular AS.
Gustavo Augusto Ferreira Mota+12 more
wiley +1 more source
JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency
Obstructive arterial diseases, including supravalvular aortic stenosis (SVAS), atherosclerosis, and restenosis, share 2 important features: an abnormal or disrupted elastic lamellae structure and excessive smooth muscle cells (SMCs).
Jui M. Dave+15 more
doaj +1 more source
Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. [PDF]
Misra et al. elucidate the origin of smooth muscle cells involved in supravalvular aortic stenosis and identify the integrin β3 pathway as a therapeutic target in this disease.
Misra A+11 more
europepmc +2 more sources