Aortic Stenosis Supravalvular
Mostrando 1-12 de 23 artigos, teses e dissertações.
-
1. Importance of SERCA2a on early isolated diastolic dysfunction induced by supravalvular aortic stenosis in rats
Cardiac remodeling is defined as changes in shape and function of the heart in response to aggression (pressure overload). The sarcoplasmic reticulum calcium ATPase cardiac isoform 2a (SERCA2a) is a known factor that influences function. A wide spectrum of studies report a decrease in SERCA2a in heart failure, but none evaluate it's the role in early isolate
Braz J Med Biol Res. Publicado em: 13/04/2017
-
2. Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren / Detection of the microdeletion 7q11.23 by MLPA® and clinical study of patients with Williams-Beuren syndrome
INTRODUCTION: Williams-Beuren syndrome (WBS) is a genetic disorder caused by a microdeletion in 7q11.23 region. It is characterized by typical facial dysmorphisms, mental retardation, hipersociable behavior, congenital heart disease, mainly supravalvular aortic stenosis (SVAS), and other variable congenital malformations. METHODS: 65 patients (40 males, 25 f
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/05/2012
-
3. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsat
Clinics. Publicado em: 2011
-
4. Análise de marcadores moleculares para o diagnóstico da síndrome de Williams-Beuren / Analysis of microsatellite DNA markers in the diagnosis of Williams- Beuren syndrome
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by hemizygous contiguous gene microdeletions at 7q11.23. Typical facies, supravalvular aortic stenosis (SVAS), mental retardation, overfriendliness and hiperacusis comprise typical symptoms in WBS. The most common deletion is 1.55 Mb, however 1.84 Mb deletion also has been described. Althoug
Publicado em: 2011
-
5. Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization
OBJECTIVE: To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome. METHODS: We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with electrocardiography and Doppler echocardiography. Fluorescence in situ hybridization (FISH) was used to confirm th
Arquivos Brasileiros de Cardiologia. Publicado em: 2003-11
-
6. Supravalvular aortic stenosis in a twin.
A case of subvalvular aortic stenosis in one of a set of dissimilar twins is reported. The case is discussed in terms of the aetiological factors involved and supports the view that supravalvular aortic stenosis is not environmental and may be genetic in origin.
-
7. A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.
The pathogenesis of vascular disease is unclear, but genetic factors play an important role. In this study we performed linkage analyses in two families with supravalvular aortic stenosis, an inherited vascular disorder that causes narrowing of major arteries and may lead to cardiac overload and failure. DNA markers on the long arm of chromosome 7 (D7S371, D
-
8. Familial supravalvular aortic stenosis: a genetic study.
Supravalvular aortic stenosis (McKusick 18550) is a rare hereditary condition with autosomal dominant transmission. However, the available data have been limited to small family groups which do not allow the definition of the degree of penetrance of the disease. The present study describes a large family with a high frequency of supravalvular aortic stenosis
-
9. Cross sectional echocardiographic assessment of the aortic root and coronary ostial stenosis in familial hypercholesterolaemia.
Aortic root abnormalities (atherosclerotic thickening and obstruction) seen at necropsy may readily be detected by aortography in familial hypercholesterolaemia. We studied 35 patients with familial types IIa and IIb hyperlipoproteinaemia including three homozygotes and 32 heterozygotes. Two homozygotes showed abnormal bright echoes (atheroma) encircling the
-
10. Supravalvular aortic stenosis. Echocardiographic features.
The echocardiographic manifestations of segmental supravalvular aortic stenosis are described in 2 patients. The diagnosis was confirmed by cardiac catheterization in both and at operation in 1. A systematic echocardiographic approach to such patients is described. The characteristic finding in these patients was the narrowing of the diameter of the aortic l
-
11. Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.
Supravalvular aortic stenosis (SVAS) may occur as an isolated autosomal dominant trait or as a feature of Williams syndrome. It has been suggested that a defect in calcitonin function may play a role in Williams syndrome. We have excluded calcitonin as a candidate gene for SVAS using a gene specific probe.
-
12. Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
Both Williams syndrome and isolated supravalvular aortic stenosis (SVAS) are caused by mutations at the elastin locus. Deletion demonstrable by FISH is the hallmark of Williams syndrome, whereas the mutations reported so far in SVAS have been more subtle. FISH positive elastin hemizygosity has not been reported in isolated SVAS. This report records our exper