Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome

Area of Science:

• Genetics
• Cardiovascular Medicine
• Rare Diseases

Background:

• Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder.
• Caused by mutations in the solute carrier family 2 member 10 (SLC2A10) gene.
• Characterized by widespread arterial tortuosity, dysmorphisms, and joint laxity.

Purpose of the Study:

• To present two new cases of ATS from unrelated families.
• To investigate intrafamilial phenotype variability in ATS.
• To identify novel clinical manifestations of ATS in pediatric patients.

Main Methods:

• Clinical case presentation of two pediatric patients diagnosed with ATS.
• Genetic analysis to identify mutations in the SLC2A10 gene.
• Computed tomography (CT) angiography for vascular assessment.

Main Results:

• Two unrelated families with ATS were identified, both with consanguinity.
• Patient 1 exhibited severe tortuosity of aortic and cerebral arteries, with migraine as a novel symptom.
• Patient 2 presented with severe pulmonary artery tortuosity, stenosis, and progressive myocardiopathy.

Conclusions:

• Findings confirm significant intrafamilial phenotype variability in ATS.
• Severe cerebral artery tortuosity causing migraine is a newly described manifestation in pediatric ATS.
• Early diagnosis and comprehensive vascular assessment are crucial for managing ATS patients.