Genetic Insights into Bicuspid Aortic Valve Formation
Bicuspid aortic valve (BAV) is the most common congenital heart defect, affecting 1-2% of the population. It is generally diagnosed late in adulthood when deterioration of the abnormal leaflet becomes clinically evident. BAV patients have an increased risk of developing serious complications, includ...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Cardiology Research and Practice |
| Online Access: | http://dx.doi.org/10.1155/2012/180297 |
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| author | Brigitte Laforest Mona Nemer |
| author_facet | Brigitte Laforest Mona Nemer |
| author_sort | Brigitte Laforest |
| collection | DOAJ |
| description | Bicuspid aortic valve (BAV) is the most common congenital heart defect, affecting 1-2% of the population. It is generally diagnosed late in adulthood when deterioration of the abnormal leaflet becomes clinically evident. BAV patients have an increased risk of developing serious complications, including stenosis, regurgitation, endocarditis, dilation of the aorta, aortic dissection, and aneurysm. BAV is a heritable trait, but the genetic basis underlying this cardiac malformation remains poorly understood. In the last decade, thanks to studies in animal models as well as genetic and biochemical approaches, a large number of genes that play important roles in heart development have been identified. These discoveries provided valuable insight into cardiac morphogenesis and uncovered congenital-heart-disease-causing genes. This paper will summarize the current knowledge of valve morphogenesis as well as our current understanding of the genetic pathways involved in BAV formation. The impact of these advances on human health including diagnosis of BAV and prevention of cardiovascular complications in individuals with BAV or with a family history of BAV is also discussed. |
| format | Article |
| id | doaj-art-77b21b39f209430ba95455bcafdc26ea |
| institution | Kabale University |
| issn | 2090-8016 2090-0597 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Cardiology Research and Practice |
| spelling | doaj-art-77b21b39f209430ba95455bcafdc26ea2025-02-03T05:53:23ZengWileyCardiology Research and Practice2090-80162090-05972012-01-01201210.1155/2012/180297180297Genetic Insights into Bicuspid Aortic Valve FormationBrigitte Laforest0Mona Nemer1Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, K1N 6N5, CanadaDepartment of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, K1N 6N5, CanadaBicuspid aortic valve (BAV) is the most common congenital heart defect, affecting 1-2% of the population. It is generally diagnosed late in adulthood when deterioration of the abnormal leaflet becomes clinically evident. BAV patients have an increased risk of developing serious complications, including stenosis, regurgitation, endocarditis, dilation of the aorta, aortic dissection, and aneurysm. BAV is a heritable trait, but the genetic basis underlying this cardiac malformation remains poorly understood. In the last decade, thanks to studies in animal models as well as genetic and biochemical approaches, a large number of genes that play important roles in heart development have been identified. These discoveries provided valuable insight into cardiac morphogenesis and uncovered congenital-heart-disease-causing genes. This paper will summarize the current knowledge of valve morphogenesis as well as our current understanding of the genetic pathways involved in BAV formation. The impact of these advances on human health including diagnosis of BAV and prevention of cardiovascular complications in individuals with BAV or with a family history of BAV is also discussed.http://dx.doi.org/10.1155/2012/180297 |
| spellingShingle | Brigitte Laforest Mona Nemer Genetic Insights into Bicuspid Aortic Valve Formation Cardiology Research and Practice |
| title | Genetic Insights into Bicuspid Aortic Valve Formation |
| title_full | Genetic Insights into Bicuspid Aortic Valve Formation |
| title_fullStr | Genetic Insights into Bicuspid Aortic Valve Formation |
| title_full_unstemmed | Genetic Insights into Bicuspid Aortic Valve Formation |
| title_short | Genetic Insights into Bicuspid Aortic Valve Formation |
| title_sort | genetic insights into bicuspid aortic valve formation |
| url | http://dx.doi.org/10.1155/2012/180297 |
| work_keys_str_mv | AT brigittelaforest geneticinsightsintobicuspidaorticvalveformation AT monanemer geneticinsightsintobicuspidaorticvalveformation |