Lorente-Herraiz, LauraCuesta Martínez, ÁngelRecio-Poveda, LucíaBotella, Luisa M.Albiñana, Virginia2025-01-272025-01-272024-06-03Lorente-Herraiz L, Cuesta AM, Recio-Poveda L, Botella LM, Albiñana V. Endothelial-to-Mesenchymal Transition in an Hereditary Hemorrhagic Telangiectasia-like Pediatric Case of Multiple Pulmonary Arteriovenous Malformations. Int J Mol Sci. 2024 Jun 3;25(11):6163. doi: 10.3390/ijms25116163. PMID: 38892351; PMCID: PMC11172626.1422-006710.3390/ijms25116163https://hdl.handle.net/20.500.14352/116164Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies resulting in abnormal connections between pulmonary arteries and veins. In 80% of cases, PAVMs are present from birth, but clinical manifestations are rarely seen in childhood. These congenital malformations are typically associated with Hereditary Hemorrhagic Telangiectasia (HHT), a rare disease that affects 1 in 5000/8000 individuals. HHT disease is frequently caused by mutations in genes involved in the TGF-β pathway. However, approximately 15% of patients do not have a genetic diagnosis and, among the genetically diagnosed, more than 33% do not meet the Curaçao criteria. This makes clinical diagnosis even more challenging in the pediatric age group. Here, we introduce an 8-year-old patient bearing a severe phenotype of multiple diffuse PAVMs caused by an unknown mutation which ended in lung transplantation. Phenotypically, the case under study follows a molecular pattern which is HHT-like. Therefore, molecular- biological and cellular-functional analyses have been performed in primary endothelial cells (ECs) isolated from the explanted lung. The findings revealed a loss of functionality in lung endothelial tissue and a stimulation of endothelial-to-mesenchymal transition. Understanding the molecular basis of this transition could potentially offer new therapeutic strategies to delay lung transplantation in severe cases.engAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/journal articlehttps://doi.org/10.3390/ijms25116163open access577.1577.2rare vascular diseasepulmonary arteriovenous malformations (PAVMs)endothelial-to-mesenchymal transition (EndMTangiogenesisTGF-βHereditary Hemorrhagic Telangiectasia (HHT)Biología molecular (Farmacia)Bioquímica (Farmacia)24 Ciencias de la Vida