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Related Experiment Video

Updated: May 13, 2026

Technical Aspects of the Mouse Aortocaval Fistula

Technical Aspects of the Mouse Aortocaval Fistula

Published on: July 11, 2013

Arterial tortuosity syndrome: case report.

C Karakurt¹, G Koçak, O Elkiran

¹Department of Paediatric Cardiology, Faculty of Medicine, Malatya, Turkey. ckarakurt@yahoo.com

Genetic Counseling (Geneva, Switzerland)

|February 26, 2013

Summary

Arterial tortuosity syndrome (ATS) is a rare genetic disorder affecting arteries. This case highlights a patient diagnosed with ATS, emphasizing its connection to connective tissue disorders and elastin network disruption.

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Area of Science:

Genetics and rare diseases
Cardiovascular medicine
Connective tissue disorders

Background:

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive condition.
Characterized by arterial elongation, tortuosity, and aneurysms.
Associated with dysmorphic features.

Observation:

A 13-year-old boy presented with aortic malformation resembling coarctation of the aorta.
He also exhibited cutis laxa-like facial dysmorphia.
Angiogram confirmed the diagnosis of ATS.

Findings:

Genetic analysis revealed a homozygous one base-pair deletion in the SLCA10 gene.
This mutation confirmed the ATS diagnosis.
The patient displayed features similar to autosomal recessive cutis laxa.

Implications:

ATS and autosomal recessive cutis laxa share similarities, including facial appearance and inguinal hernias.
Both conditions are connective tissue disorders impacting the elastin network.
This case underscores the importance of recognizing ATS and its overlap with other elastin-related disorders.