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Aortic root dilation in a child with Marfan syndrome and mosaic Turner syndrome

Published online by Cambridge University Press:  07 October 2020

Abraham Groner Open the ORCID record for Abraham Groner [Opens in a new window]  and
Asad Qadir
Abraham Groner*
Affiliation:
Division of Biological Sciences, Section of Pediatric Cardiology, University of Chicago, Chicago, IL, USA
Asad Qadir
Affiliation:
Division of Biological Sciences, Section of Pediatric Cardiology, University of Chicago, Chicago, IL, USA
*
Author for correspondence: Abraham Groner, Division of Biological Sciences, Section of Pediatric Cardiology, University of Chicago, Chicago, IL, USA. E-mail: [email protected]
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Abstract

Patients with a known genetic cause of aortic root dilation usually have a single underlying aetiology, either a single gene defect as in Marfan syndrome or chromosomal anomaly as in Turner syndrome. However, it is possible, although unlikely, for a patient to inherit multiple independent risk factors for aortic root dilation. We describe such a patient, who inherited Marfan syndrome and a very unusual form of mosaic Turner syndrome. Long-term follow-up of this patient may provide insight into the natural history of this unique genetic combination.

Keywords

Mosaic Turner syndromeMarfan syndromeaortic root dilation
Type
Brief Report
Information
Cardiology in the Young , Volume 30 , Issue 12 , December 2020 , pp. 1976 - 1977
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Copyright
© The Author(s), 2020. Published by Cambridge University Press

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