[Arterial tortuosity syndrome]

Area of Science:

• Genetics
• Pediatrics
• Cardiology

Background:

• Arterial tortuosity syndrome (ATS) is a rare congenital disorder characterized by widespread elongation and tortuosity of major arteries.
• Clinical features often include signs of a connective tissue disorder, such as hyperelastic skin and joint laxity, overlapping with Ehlers-Danlos syndrome and Cutis laxa syndrome.
• The genetic basis of ATS was recently localized to chromosome 20q13, with an autosomal recessive inheritance pattern.

Observation:

• This report details a newborn diagnosed with arterial tortuosity syndrome (ATS).
• The infant presented with a hiatal hernia, bilateral hip dislocations, inguinal hernias, and generalized tortuosity of the great arteries, including the aorta.
• Genetic analysis excluded known loci for Ehlers-Danlos syndrome and Cutis laxa syndrome.

Findings:

• Homozygosity mapping using polymorphic microsatellite markers confirmed the gene locus for ATS on chromosome 20q13 in the affected newborn.
• This finding supports the previously identified chromosomal region associated with arterial tortuosity syndrome.

Implications:

• This case reinforces the genetic localization of arterial tortuosity syndrome to chromosome 20q13.
• Further research into the specific gene(s) at this locus is warranted for improved diagnosis and potential therapeutic strategies for ATS.
• Understanding the genetic underpinnings of ATS can aid in differentiating it from other connective tissue disorders.