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Arterial tortuosity syndrome.

P Franceschini¹, A Guala, D Licata

¹Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università degli Studi di Torino, Torino, Italy. francesc@pediatria.unito.it

American Journal of Medical Genetics

|April 5, 2000

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Arterial tortuosity syndrome (ATS) is a rare genetic disorder causing widespread artery elongation and twisting. This case study details a patient with ATS, highlighting key clinical features and differentiating it from similar connective tissue disorders.

Area of Science:

Genetics
Vascular Biology
Rare Diseases

Background:

Arterial tortuosity syndrome (ATS) is a rare inherited connective tissue disorder.
Characterized by generalized elongation and tortuosity of major arteries.
Often presents with associated features like joint laxity and keratoconus.

Observation:

A case of ATS is presented with detailed clinical manifestations.
The patient exhibited severe keratoconus, soft skin, and joint laxity.
Cranial and carotid artery tortuosity were significant findings.

Findings:

Cytochemical studies ruled out Ehlers-Danlos syndromes types IV and VII.
The patient's siblings likely had ATS and died young, suggesting a genetic link.
This report reviews 11 previously documented ATS cases.

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Implications:

Further research into ATS genetics and pathophysiology is warranted.
Improved diagnostic criteria and understanding of ATS progression are needed.
Early diagnosis and management can potentially improve patient outcomes.