×
About 173 results

ALLMedicine™ Supravalvular Aortic Stenosis Center

Research & Reviews  64 results

Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank
https://clinicaltrials.gov/ct2/show/NCT02706639

Jun 24th, 2022 - Our goal with the Williams syndrome (WS) and Supravalvular Aortic Stenosis (SVAS), deoxyribonucleic acid (DNA) and Tissue Bank is to collect enough samples from individuals with these rare conditions to ask questions about the genes that cause the...

An update on lipid apheresis for familial hypercholesterolemia.
https://doi.org/10.1007/s00467-022-05541-1 10.3181/00379727-80-19629 10.1016/s0140-6736(76)93089-0 10.1046/j.1537-2995.1999.39399219285.x 10.1172/JCI107332 10.1172/JCI114531 10.1016/j.jacc.2020.03.057 10.2147/tacg.s8285 10.1093/aje/kwh236 10.5551/jat.CR003 10.1210/jc.2002-021487 10.1016/j.atherosclerosis.2012.02.019 10.1016/j.atherosclerosis.2013.12.020 10.1016/j.amjcard.2008.07.035 10.1136/hrt.80.6.583 10.1016/S0140-6736(04)15467-6 10.1016/j.amjcard.2020.09.015 10.1097/CRD.0000000000000014 10.1016/j.pcad.2015.04.004 10.1056/NEJM198006263022607 10.1016/j.atherosclerosis.2009.06.010 10.1046/j.1526-0968.2001.00328.x 10.1046/j.1526-0968.2003.00073.x 10.1371/journal.pone.0101290 10.1097/01.ccx.0000244119.16377.75 10.1016/S1567-5688(09)71812-4 10.1111/j.1744-9987.2006.00441.x 10.1161/01.cir.96.5.1381 10.1007/s00467-018-3906-6 10.1016/j.jacl.2016.08.006 10.1161/CIRCULATIONAHA.106.671016 10.1161/01.cir.0000058166.99182.54 10.1016/j.jacc.2016.03.520 10.4158/EP171764.APPGL 10.1016/j.atherosclerosis.2011.06.016 10.1093/eurheartj/ehu274 10.1093/eurheartj/eht273 10.1093/eurheartj/ehz455 10.1002/jca.21743 10.1111/1744-9987.13799 10.1111/trf.14479 10.1111/trf.15512
Pediatric Nephrology (Berlin, Germany); Taylan C, Weber LT

Apr 26th, 2022 - Familial hypercholesterolemia (FH) is an inherited metabolic defect leading to increased total cholesterol and low-density cholesterol (LDL) from birth onwards. Homozygous FH, presenting with clear clinical features, has a prevalence of ~ 1 per mi...

Elastin, arterial mechanics, and stenosis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9037699
American Journal of Physiology. Cell Physiology; Lin CJ, Cocciolone AJ et. al.

Feb 24th, 2022 - Elastin is a long-lived extracellular matrix protein that is organized into elastic fibers that provide elasticity to the arterial wall, allowing stretch and recoil with each cardiac cycle. By forming lamellar units with smooth muscle cells, elast...

A rare combination of cardiovascular anomaly: Aortic stenosis at sinotubular junction l...
https://doi.org/10.1111/jocs.16266
Journal of Cardiac Surgery; Ling Y, Song J et. al.

Jan 24th, 2022 - Supravalvular aortic stenosis (SVAS) and congenital discontinuity of right coronary artery are both rare congenital cardiovascular abnormalities. This is the first case report about SVAS that occurred with the congenital discontinuity of right cor...

JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884911
The Journal of Clinical Investigation; Dave JM, Chakraborty R et. al.

Jan 7th, 2022 - 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). However, the ...

see more →

Clinicaltrials.gov  4 results

Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank
https://clinicaltrials.gov/ct2/show/NCT02706639

Jun 24th, 2022 - Our goal with the Williams syndrome (WS) and Supravalvular Aortic Stenosis (SVAS), deoxyribonucleic acid (DNA) and Tissue Bank is to collect enough samples from individuals with these rare conditions to ask questions about the genes that cause the...

Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH)
https://clinicaltrials.gov/ct2/show/NCT03198897

May 13th, 2021 - Homozygous familial hypercholesterolemia (HoFH) is a rare hereditary disorder of lipoprotein metabolism characterized by exceptionally high levels of low-density lipoprotein cholesterol (LDL-C). Clinical manifestations may vary but often include m...

Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
https://clinicaltrials.gov/ct2/show/NCT00876200

Jul 26th, 2019 - The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin locus. Elastin, whi...

Vitamin D Metabolism and the Williams Syndrome
https://clinicaltrials.gov/ct2/show/NCT00013962

Jun 24th, 2005 - The Williams syndrome is a disease in which supravalvular aortic stenosis, an elfin facies, mental retardation and other congenital defects are sometimes associated with abnormal vitamin D and calcium metabolism. Whereas some patients have been re...

see more →

News  1 results

Genetics of Pediatric Arteriopathies Could Inform Stroke Treatment
https://www.mdedge.com/internalmedicine/article/33138/neurology/genetics-pediatric-arteriopathies-could-inform-stroke
Jeff Evans

Mar 28th, 2011 - Primary and secondary prevention measures for children at risk for idiopathic arterial ischemic stroke need to target disease mechanisms unique to nonatherosclerotic arteriopathies, according to pediatric stroke researchers. Risk factors, signs, a.

see more →