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Challenging echocardiographic pictures of aortic arch: when heart murmur leads to a rare diagnosis

Published online by Cambridge University Press:  12 September 2022

Fanny Henssen ,
Jamil Khamis  and
Isabelle Loeckx Open the ORCID record for Isabelle Loeckx [Opens in a new window]
Fanny Henssen
Affiliation:
Department of Paediatrics, CHC Groupe Santé, Clinique du MontLégia, Liège, Belgium
Jamil Khamis
Affiliation:
Department of Medical Imaging, CHC Groupe Santé, Clinique du MontLégia, Liège, Belgium
Isabelle Loeckx*
Affiliation:
Department of Paediatric Cardiology, CHC Groupe Santé, Clinique du MontLégia, Liège, Belgium
*
Author for correspondence: Isabelle Loeckx, Department of Pediatric Cardiology, CHC Groupe Santé, Clinique du MontLégia, Liège 4000 (Boulevard Patience et Beaujonc, 2), Belgium. E-mail: isabelle.loeckx@chc.be
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Abstract

We describe the case of a 2-week-old boy referred for systolic murmur. His echocardiography showed challenging pictures of the aortic arch, which led to the rare diagnosis of arterial tortuosity syndrome.

Keywords

Arterial tortuosity syndromeaortic arch abnormalitiesechocardiography
Type
Images in Congenital Cardiac Disease
Information
Cardiology in the Young , Volume 32 , Issue 10 , October 2022 , pp. 1675 - 1676
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Copyright
© The Author(s), 2022. Published by Cambridge University Press

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References

Callewaert, B, De Paepe, A, Coucke, P. Arterial tortuosity syndrome. In: Adam, MP, Ardinger, HH, Pagon, RA, et al. (eds). GeneReviews®. University of Washington, Seattle, Seattle (WA), November 13, 2014.Google Scholar
Al-Khaldi, A, Momenah, T, Alsahari, A, et al. Late outcomes after pulmonary arterial reconstruction in patients with arterial tortuosity syndrome. Ann Thorac Surg 2022 May; 113: 1569–1574.CrossRefGoogle ScholarPubMed