Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature

Arterial tortuosity syndrome (ATS) is a rare hereditary, autosomal recessive, connective tissue disorder. Herein, we describe a five-year-old boy. He had hyperextensible skin, atypical facial features and inguinal hernia. We present his vascular imaging studies of kinking and tortuosity of th...

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Main Authors: Filiz Ekici, Tayfun Uçar, Suat Fitöz, Semra Atalay, Ercan Tutar
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2011-02-01
Series:The Turkish Journal of Pediatrics
Online Access:https://turkjpediatr.org/article/view/1732
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author Filiz Ekici
Tayfun Uçar
Suat Fitöz
Semra Atalay
Ercan Tutar
author_facet Filiz Ekici
Tayfun Uçar
Suat Fitöz
Semra Atalay
Ercan Tutar
author_sort Filiz Ekici
collection DOAJ
description Arterial tortuosity syndrome (ATS) is a rare hereditary, autosomal recessive, connective tissue disorder. Herein, we describe a five-year-old boy. He had hyperextensible skin, atypical facial features and inguinal hernia. We present his vascular imaging studies of kinking and tortuosity of the aorta and bilateral multiple peripheral pulmonary artery stenoses determined by conventional and magnetic resonance angiographic (MRA) examination. ATS must be considered in patients with connective tissue condition associated with diffuse arterial changes and involvement of the skin, joints and other organs. Vascular imaging studies, especially MRA, are useful in the screening of these vascular abnormalities.
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institution DOAJ
issn 0041-4301
2791-6421
language English
publishDate 2011-02-01
publisher Hacettepe University Institute of Child Health
record_format Article
series The Turkish Journal of Pediatrics
spelling doaj-art-0c326796b4b8468aa54a2bb9d59e81512025-08-20T03:00:54ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212011-02-01531Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literatureFiliz Ekici0Tayfun UçarSuat FitözSemra AtalayErcan TutarDepartment of Pediatric Cardiology, Ankara Children's Hematology and Oncology Hospital, Ankara, Turkey. Arterial tortuosity syndrome (ATS) is a rare hereditary, autosomal recessive, connective tissue disorder. Herein, we describe a five-year-old boy. He had hyperextensible skin, atypical facial features and inguinal hernia. We present his vascular imaging studies of kinking and tortuosity of the aorta and bilateral multiple peripheral pulmonary artery stenoses determined by conventional and magnetic resonance angiographic (MRA) examination. ATS must be considered in patients with connective tissue condition associated with diffuse arterial changes and involvement of the skin, joints and other organs. Vascular imaging studies, especially MRA, are useful in the screening of these vascular abnormalities. https://turkjpediatr.org/article/view/1732
spellingShingle Filiz Ekici
Tayfun Uçar
Suat Fitöz
Semra Atalay
Ercan Tutar
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature
The Turkish Journal of Pediatrics
title Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature
title_full Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature
title_fullStr Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature
title_full_unstemmed Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature
title_short Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature
title_sort cardiovascular findings in a boy with arterial tortuosity syndrome case report and review of the literature
url https://turkjpediatr.org/article/view/1732
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AT tayfunucar cardiovascularfindingsinaboywitharterialtortuositysyndromecasereportandreviewoftheliterature
AT suatfitoz cardiovascularfindingsinaboywitharterialtortuositysyndromecasereportandreviewoftheliterature
AT semraatalay cardiovascularfindingsinaboywitharterialtortuositysyndromecasereportandreviewoftheliterature
AT ercantutar cardiovascularfindingsinaboywitharterialtortuositysyndromecasereportandreviewoftheliterature