Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree [PDF]
, 2018 Background: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade.
Bekkers, S.C.A.M. +14 more
core +1 more source
High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndrome [PDF]
, 2015 BACKGROUND: A high incidence of cardiovascular (CV) risk factors has been reported in adults with Williams-Beuren syndrome (WS). However, the prevalence of these factors in children and adolescents with WS is unknown. Therefore, the purpose of this study
Furutani Michiko +6 more
core +2 more sources
Kurdistan Journal of Applied Research, 2017 Aortic stenosis occurs when the heart's aortic valve narrows. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta and onward to the rest of the body.
Aso Faeq Salih
doaj +1 more source
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing. [PDF]
Mol Syndromol, 2019 Apparently, balanced chromosomal rearrangements usually have no phenotypic consequences for the carrier. However, in some cases, they may be associated with an abnormal phenotype.
Pons L +12 more
europepmc +2 more sources
Combined Supravalvular Aortic and Pulmonic Stenosis [PDF]
Circulation, 1963 The association of supravalvular aortic stenosis and postvalvular pulmonic stenosis is described in three patients. In addition to the clinical findings resulting from obstruction to both ventricular outflow tracts, other unusual features were also present, such as a difference in the pulses and blood pressure of the upper extremities and absence of ...
L. Campeau, M. G. Bourassa
openaire +3 more sources
Cardiac catheterization under echocardiographic control in a pregnant woman [PDF]
, 1981 A 22 year old woman had signs of rheumatic mitral and aortic valve disease early in pregnancy. Cardiac catheterization was performed during her third month of pregnancy under two-dimensional echocardiographic control without the use of ionizing radiation.
Hugenholtz, P.G. (Paul) +4 more
core +1 more source
Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome
Türk Kardiyoloji Derneği Arşivi, 2017 Williams syndrome is a rare neurodevelopmental disorder characterized by mental retardation, growth deficiency, hypercalcemia, cardiac defects, and a distinctive facial appearance.
İsmihan Selen Onan +4 more
doaj +1 more source
Clinical features and surgical outcomes of complete transposition of the great arteries [PDF]
, 2012 PurposeThis single-center study aimed to assess the clinical features and surgical approaches and outcomes of complete transposition of the great arteries (TGA).MethodsTGA patients who had undergone surgical correction at the Kyungpook National ...
Ades +33 more
core +1 more source
, 2021 We reported a case of a 3-month-old infant presented with supravalvular aortic stenosis with congenital right coronary artery deficiency. According to cardiovascular CT results, Doty technique was adopted to restore the aortic root geometry under ...
Yunfei Ling +3 more
semanticscholar +1 more source
Follow-up study of morphology and cardiac function in rats undergoing induction of supravalvular aortic stenosis [PDF]
Arquivos Brasileiros de Cardiologia, 2003 OBJECTIVE: To characterize the follow-up of an experimental model of left ventricular hypertrophy (LVH) induced by supravalvular ascending aortic stenosis in young rats.
Henrique Barbosa Ribeiro +8 more
doaj +3 more sources