2026-06-14T05:06:55Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/237262024-11-29T02:25:34Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Torres-Juan, Laura author Rico, Yolanda author Fortuny Frau, Elena author Pons De Ves, Jaime author Ramos, Rafael author Santos-Simarro, Fernando author Asensio, Víctor José author Martínez-López, Icíar author Heine-Suñer, Damián author 2023 Thoracic aortic aneurysms (TAA) consist of abnormal dilation or the widening of a portion of the ascending aorta, due to weakness or destructuring of the walls of the vessel and are potentially lethal. The congenital bicuspid aortic valve (BAV) is considered a risk factor for the development of TAA because asymmetric blood flow through the bicuspid aortic valve detrimentally influences the wall of the ascending aorta. NOTCH1 mutations have been associated with non-syndromic TAAs as a consequence of BAV, but little is known regarding its haploinsufficiency and its relationship with connective tissue abnormalities. We report two cases in which there is clear evidence that alterations in the NOTCH1 gene are the cause of TAA in the absence of BAV. On the one hand, we describe a 117 Kb deletion that includes a large part of the NOTCH1 gene and no other coding genes, suggesting that haploinsufficiency can be considered a pathogenic mechanism for this gene associated with TAA. In addition, we describe two brothers who carry two variants, one in the NOTCH1 gene and another in the MIB1 gene, corroborating the involvement of different genes of the Notch pathway in aortic pathology. Torres-Juan L, Rico Y, Fortuny E, Pons J, Ramos R, Santos-Simarro F, et al. NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported. Int J Mol Sci. 2023 May 12;24(10):8644. 10.3390/ijms24108644 1422-0067 International Journal of Molecular Sciences https://hdl.handle.net/20.500.13003/18898 37239988 L2023423791 2-s2.0-85160378108 https://hdl.handle.net/20.500.12105/23726 NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported