The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve Disease
Bicuspid Aortic Valve (BAV) is a prevalent congenital heart defect, characterized by the presence of two cusps instead of three, leading to significant clinical implications such as aortic stenosis, regurgitation, and aneurysms. Understanding the genetic underpinnings of BAV is essential for early d...
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MDPI AG
2025-01-01
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| Series: | Applied Sciences |
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| Online Access: | https://www.mdpi.com/2076-3417/15/2/714 |
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| author | Vaneeza Moosa Julio Garcia |
| author_facet | Vaneeza Moosa Julio Garcia |
| author_sort | Vaneeza Moosa |
| collection | DOAJ |
| description | Bicuspid Aortic Valve (BAV) is a prevalent congenital heart defect, characterized by the presence of two cusps instead of three, leading to significant clinical implications such as aortic stenosis, regurgitation, and aneurysms. Understanding the genetic underpinnings of BAV is essential for early diagnosis and management, which can prevent severe complications like aortic dissection and heart failure. Recent studies have identified critical genes associated with BAV, including NOTCH1, GATA4, GATA5, SMAD6, NKX2.5, BMP2, and ROBO4, all of which play vital roles in aortic valve development and function. Imaging advancements, particularly in cardiac MRI and echocardiography, have enhanced the assessment of valve morphology and hemodynamics, with Wall Shear Stress emerging as a promising biomarker. This review consolidates current genetic and imaging research, elucidating the contributions of genetic variants to the etiology and progression of BAV, while emphasizing the importance of imaging biomarkers in clinical management. The findings aim to improve genetic screening strategies, facilitate early diagnosis, and guide the development of targeted therapies for individuals with BAV. |
| format | Article |
| id | doaj-art-90aaffd8bade49ab9b66457e6ce1a857 |
| institution | Kabale University |
| issn | 2076-3417 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Applied Sciences |
| spelling | doaj-art-90aaffd8bade49ab9b66457e6ce1a8572025-01-24T13:20:33ZengMDPI AGApplied Sciences2076-34172025-01-0115271410.3390/app15020714The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve DiseaseVaneeza Moosa0Julio Garcia1Undergraduate Medical Education, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, CanadaDepartment of Radiology, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, CanadaBicuspid Aortic Valve (BAV) is a prevalent congenital heart defect, characterized by the presence of two cusps instead of three, leading to significant clinical implications such as aortic stenosis, regurgitation, and aneurysms. Understanding the genetic underpinnings of BAV is essential for early diagnosis and management, which can prevent severe complications like aortic dissection and heart failure. Recent studies have identified critical genes associated with BAV, including NOTCH1, GATA4, GATA5, SMAD6, NKX2.5, BMP2, and ROBO4, all of which play vital roles in aortic valve development and function. Imaging advancements, particularly in cardiac MRI and echocardiography, have enhanced the assessment of valve morphology and hemodynamics, with Wall Shear Stress emerging as a promising biomarker. This review consolidates current genetic and imaging research, elucidating the contributions of genetic variants to the etiology and progression of BAV, while emphasizing the importance of imaging biomarkers in clinical management. The findings aim to improve genetic screening strategies, facilitate early diagnosis, and guide the development of targeted therapies for individuals with BAV.https://www.mdpi.com/2076-3417/15/2/714Bicuspid Aortic Valvegenetic mutationsimaging biomarkersaortic stenosiswall shear stresscardiac MRI |
| spellingShingle | Vaneeza Moosa Julio Garcia The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve Disease Applied Sciences Bicuspid Aortic Valve genetic mutations imaging biomarkers aortic stenosis wall shear stress cardiac MRI |
| title | The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve Disease |
| title_full | The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve Disease |
| title_fullStr | The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve Disease |
| title_full_unstemmed | The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve Disease |
| title_short | The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve Disease |
| title_sort | genetic and imaging key to understanding bicuspid aortic valve disease |
| topic | Bicuspid Aortic Valve genetic mutations imaging biomarkers aortic stenosis wall shear stress cardiac MRI |
| url | https://www.mdpi.com/2076-3417/15/2/714 |
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