Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report

• DOI: 10.1186/s42269-022-00938-2
• Publication Date: 2022-09-22T23:03:41Z
• Authors: Daniel Palanca Arias; Ariadna Ayerza Casas; Marcos Clavero Adell; Cristina Gutiérre...; Marta López Ramón; Lorenzo Jiménez M...; Victoria Estaben ...; Silvia Izquierdo-...
• Keywords: Tortuosity; Arterial dissection

Abstract Background Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium large-caliber arteries, vascular dissection, ischemic events. To date, approximately 100 patients have been reported carrying some the fewer than 35 causal mutations SLC2A10 gene. Case presentation Here we present clinical molecular characterization two new Spanish pediatric ATS from unrelated families same city short period time. Due to knowledge pathology through first case this was suspected birth second case, requesting directed genetic study. Conclusion In addition arterial features, sequencing analysis revealed homozygous heterozygous Frameshift Deletion . Confirm diagnosis few years life most critical for possible life-threatening events offer adequate counseling.