scholarly journals Bicuspid Aortic Valve: Morphology, Clinic, Diagnosis, Complications

2021 ◽  
Vol 17 (1) ◽  
pp. 111-118
Author(s):  
Y. L. Trysvetava
Keyword(s):  
Surgical Treatment ◽  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Treatment Technique ◽  
Aortic Lesion ◽  
Valve Dysfunction ◽  
Echocardiographic Study

Bicuspid aortic valve refers to common (0.5-2% of the population) congenital heart defects that are asymptomatic throughout life, with valve dysfunction and/or aortopathy (pathia- from Greek pathos disease), manifested by expansion, aneurysm or dissection of the vessel. The pathogenesis of the formation of a bicuspid valve is unknown, a genetic component is noted, since the defect develops as sporadic, familial, in combination with other congenital heart defects and with hereditary connective tissue disorders. Morphogenetic studies suggest that different phenotypes of bicuspid aortic valve can be considered as etiologically different diseases, with valve dysfunction or valve dysfunction and aortopathy. Aortic lesion is characterized by phenotypic heterogeneity due to genetic or hemodynamic features. Researchers are discussing the relationship between the phenotype of the bicuspid aortic valve and aortopathy to predict the course of the disease and select the optimal surgical treatment technique. Diagnosis of heart disease is based on the results of an echocardiographic study, magnetic resonance imaging. Surgical treatment is performed for significant hemodynamic disturbances resulting from insufficiency or stenosis of the aortic valve, in cases of infective endocarditis, the risk of which is high, with aneurysm or aortic dissection.

Incidence, morphology, and progression of bicuspid aortic valve in pediatric and young adult subjects with coexisting congenital heart defects

2016 ◽  
Vol 12 (3) ◽  
pp. 261-269 ◽  
Author(s):  
Talha Niaz ◽  
Joseph T. Poterucha ◽  
Jonathan N. Johnson ◽  
Cecilia Craviari ◽  
Thomas Nienaber ◽  
...  
Keyword(s):  
Young Adult ◽  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

The contribution of X-chromosome genomic imprinting to the bicuspid aortic valve and aortic coarctation prevalence in women with Turner syndrome

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
E Klaskova ◽  
P Vrtel ◽  
R Vrtel ◽  
K Adamova ◽  
D.I.T.A Vrbicka ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Genomic Imprinting ◽  
Bicuspid Aortic Valve ◽  
X Chromosome ◽  
Congenital Heart Defects ◽  
Aortic Coarctation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Funding Source

Abstract Introduction Turner syndrome (TS) is caused by the absence or structural abnormality of X chromosome. Compared with the general population, the prevalence of congenital heart defects is significantly higher in women with TS, especially with 45,X karyotype. Moreover, congenital heart defects represent the major risk for aortic dissection in TS individuals. Purpose There is a lack of reliable evidence whether the extremely variable cardiovascular phenotype including presence of aortic coarctation (CoA) and bicuspid aortic valve (BAV) in TS women may be influenced by the parental origin of the retained X chromosome. Methods DNA samples were collected from peripheral lymphocytes of 48 women with non-mosaic 45,X karyotype and from buccal swab of their biological parents' cheek. Subsequently, the single normal X-chromosome origin was identified. Based on genetic evaluation, patients were divided into two subgroups according to the parenteral original of X chromosome - maternal (XM), and paternal (XP). Complete cardiovascular examination (echocardiography, MRI of the heart and great vessels) was performed in each of our study patient. Differences between the prevalence of BAV and CoA in two above mentioned subgroups were tested by Student's t-test using R Statistical Software version 2.15.3. Results The origin of the single X chromosome was as follows: in 14 (29.2%) individuals was proved paternal and in 34 (70.8%) maternal origin of X chromosome. The prevalence of BAV in the whole group was 47.9%, in XP 58%, in XM 44.1%; the prevalence of CoA in the whole group was 8.3%, in XP 7.1%, in XM 8.8%. There was no statistically significant difference identified between the prevalence of BAV and CoA in XP and XM subgroups. Conclusions Our study confirmed an extremely high prevalence of BAV and CoA in non-mosaic women with X chromosome monosomy but no clear evidence for X-linked genomic imprinting effect on the CoA and BAV development in TS individuals was found. However, further studies of larger numbers of TS patients are crucial to finally clarify the real relationship of genomic imprinting and cardiovascular disease in TS. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Supported by the grant from Ministry of Health of the Czech Republic VES 2017

scholarly journals Quadricuspid aortic valve: an unexpected echocardiographic finding.

2016 ◽  
Vol 18 (2) ◽  
pp. 250 ◽  
Author(s):  
Carlos Manuel Aboitiz-Rivera ◽  
Ruben Blachman-Braun ◽  
Mario Fernando Lanza ◽  
Roberto Berebichez-Fridman ◽  
María José Díaz-Huízar ◽  
...  
Keyword(s):  
Aortic Valve ◽  
General Population ◽  
Literature Review ◽  
Aortic Valve Replacement ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Quadricuspid Aortic Valve ◽  
Hispanic Population ◽  
Echocardiographic Finding

Quadricuspid aortic valve (QAV) is an anatomic valvular variant, with a prevalence of 0.008% to 0.033% in the general population, and 1.46% in patients that undergo aortic valve replacement. The QAV can be an isolated valvular abnormality or associated  with other congenital heart defects. In this article, we present three of the few reported cases of QAV in the Hispanic population,  all of which  were asymptomatic and without evidence of hemodynamic alterations or other associated heart defects. Additionally a literature review is provided. 

Surgical treatment of arrhythmias in adults with congenital heart defects

2008 ◽  
Vol 129 (1) ◽  
pp. 37-41 ◽  
Author(s):  
Alessandro Giamberti ◽  
Massimo Chessa ◽  
Raul Abella ◽  
Gianfranco Butera ◽  
Diana Negura ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Treatment Of Arrhythmias

scholarly journals Surgical Treatment for Congenital Heart Defects in Down Syndrome Patients

2019 ◽  
Vol 34 (1) ◽  
Author(s):  
Fernando Cesar Gimenes Barbosa Santos ◽  
Ulisses Alexandre Croti ◽  
Carlos Henrique De Marchi ◽  
Alexandre Noboru Murakami ◽  
Juliana Dane Pereira Brachine ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Surgical Treatment ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects
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