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Título : Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy
Autor : Junco Vicente, Alejandro
Del Río García, Álvaro
Martín, María
Rodríguez, Isabel
Palabras clave : Aortopathy
Bicuspid Aortic Valve
Bicuspid Aortopathy
Congenital Heart Disease
Fecha de publicación : 27-may-2021
Editorial : MDPI
Citación : Tejera Munoz, A; Rodriguez, I; Del Rio Garcia, A; Mohamedi, Y; Martin, M; Chiminazzo, V; Suarez Alvarez, B; Lopez Larrea, C; Ruiz Ortega, M; Rodrigues Diez, RR. The CCN2 Polymorphism rs12526196 Is a Risk Factor for Ascending Thoracic Aortic Aneurysm. Int J Mol Sci. 2022. 23. (23). 15406. DOI: 10.3390/ijms232315406
Resumen : Bicuspid aortic valve (BAV) associated with aortopathy is the most common congenital heart disease in the general population. Far from being a simple harmless valve malformation, it can be a complex and heterogeneous disease and a source of chronic and acute pathology (early valvular disease, aneurysm, dissection). In the previous years, intense research has been carried out to find out and understand its mechanisms, but the pathophysiology of the disease is still not fully understood and many questions remain open. Recent studies have discovered several genetic mutations involved in the development of valvular and aortic malformations, but still cannot explain more than 5–10% of cases. Other studies have also focused on molecular alterations and cellular processes (TGF-β pathway, microRNAs, degradation of the extracellular matrix, metalloproteinases, etc.), being a field in constant search and development, looking for a therapeutic target to prevent the development of the disease. Increased knowledge about this multifaceted disorder, derived from both basic and clinical research, may influence the diagnosis, follow-up, prognosis, and therapies of affected patients in the near future. This review focuses on the latest and outstanding developments on the molecular and genetic investigations of the bicuspid aortopathy
URI : https://ria.asturias.es/RIA/handle/123456789/14643
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