An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism [PDF]
, 2009 Cutis laxa (CL) is a heterogeneous group of connective tissue disorders characterized by loose, sagging skin and variable involvement of other organs.
Cure, Susan +9 more
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Description of the children with aortic stenosis at the Chris Hani Baragwanath Academic Hospital over 20 years [PDF]
, 2017 A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand Johannesburg, in fulfilment of the requirements for the degree of Master of Medicine (Med) in the branch of Paediatrics.
Mendes, Jacqueline Faria
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Genetic and Developmental Basis of Cardiovascular Malformations [PDF]
, 2016 Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs ...
Azhar, Mohamad, Ware, Stephanie M.
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Architecture of the Subendothelial Elastic Fibers of Small Blood Vessels and Variations in Vascular Type and Size [PDF]
, 2013 Most blood vessels contain elastin that provides the vessels with the resilience and flexibility necessary to control hemodynamics. Pathophysiological hemodynamic changes affect the remodeling of elastic components, but little is known about their ...
Kosaka, Mitsuko +7 more
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Coexistence of supravalvular aortic stenosis and osteogenesis imperfecta. [PDF]
, 2001 A 54 year old woman was admitted for cardiac catheterisation. She had-been attending the outpatient clinic since 1975, with regular review. She had diagnoses of type I osteogenesis imperfecta, and of supravalvular aortic stenosis. Osteogenesis imperfecta
Khan, M. M. +4 more
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Intraaortic balloon counterpulsation as a temporary support measure in decompensated critical aortic stenosis [PDF]
, 1985 Intraaortic balloon counterpulsation was instituted in two adult patients whose condition was rapidly deteriorating because of critical decompensated valvular aortic stenosis.
Folland, Edward D. +4 more
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Progressive discrete subaortic stenosis developed after successful primary repair of the supravalvular aortic stenosis in Williams syndrome [PDF]
, 2009 Discrete subaortic stenosis is a rare, late complication of the surgical repair of congenital heart defects. Secondary subaortic stenosis late after surgical repair of supravalvular aortic stenosis in Williams syndrome has not previously been described ...
Kuperstein, Rafael +2 more
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Novel three-sinus enlargement technique for supravalvular aortic stenosis without aortic transection [PDF]
J Cardiothorac Surg, 2016 AG Brom +11 more
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Tetralogy of Fallot associated with supramitral ring: “Paying for a near miss” [PDF]
, 2015 A 13-year-old girl developed the features of congestive heart failure on day three of intracardiac repair of tetralogy of Fallot. A routine transthoracic echocardiography identified the missed supramitral ring (SMR), closely placed just above the mitral ...
Barik, Ramachandra, Nemani, Lalita
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The Surgical Treatment of Supravalvular Aortic Stenosis Based on Two Cases [PDF]
, 1962 Sam Nordström, T Silander
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