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

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

Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review

“…Beyens et al have reported a male-to-female ratio of 27:22 in a retrospective characterization of 50 ATS patients’ symptoms [ 2 ]. The ATS typically appears during the early years of life, depending on complications that occur in infancy and the participation of several systems affected by this recessively inherited disorder [ 2 , 4 ]. From the analysis of a cohort of 50 new ATS patients and reviewing the 52 previously reported ATS patients’ data, the age at diagnosis for this disease was found to be 4.84 years (mean) and two years (median) [ 2 ].…”

Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder

“…Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by abnormal twists and turns (tortuosity) of the arteries. The condition was first reported around 55 years ago and is inherited in an autosomal recessive manner [ 1 , 2 ]. It affects both males and females, with no significant gender bias [ 3 ].…”