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[Arterial tortuosity syndrome].

S Meyer1, M Faiyaz-Ul-Haque, M Zankl

  • 1Klinik für Allgemeine Pädiatrie und Neonatologie, Universitätsklinikum des Saarlandes, Homburg/Saar. sascha.meyer@uniklinik-saarland.de

Klinische Padiatrie
|January 11, 2005
PubMed
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Arterial tortuosity syndrome (ATS) is a rare congenital disorder affecting major arteries. This study confirms the ATS gene locus on chromosome 20q13 in a newborn with multiple congenital anomalies.

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.

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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.