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First antenatally confirmed case of arterial tortuosity syndrome

Published online by Cambridge University Press:  08 September 2020

Sakethram Saravu Vijayashankar Open the ORCID record for Sakethram Saravu Vijayashankar [Opens in a new window] ,
J. A. Gordon Culham  and
Shreya Moodley
Sakethram Saravu Vijayashankar*
Affiliation:
BC Children’s Hospital, Vancouver, British Columbia, Canada
J. A. Gordon Culham
Affiliation:
BC Children’s Hospital, Vancouver, British Columbia, Canada
Shreya Moodley
Affiliation:
BC Children’s Hospital, Vancouver, British Columbia, Canada
*
Author for correspondence: Sakethram Saravu Vijayashankar MD, MRCPCH, BC Children’s Hospital, 4480 Oak Street, Vancouver, British ColumbiaV6H 3V4, Tel: +1(778) 887-1817; Fax: +1 (604) 875-3463. E-mail: [email protected]
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Abstract

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.

Keywords

Arterial tortuosity syndromeantenatal diagnosis
Type
Brief Report
Information
Cardiology in the Young , Volume 30 , Issue 11 , November 2020 , pp. 1738 - 1740
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Copyright
© The Author(s), 2020. Published by Cambridge University Press

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