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Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)

Part of: Basic Science

Published online by Cambridge University Press:  26 December 2018

Utkarsh Kohli Open the ORCID record for Utkarsh Kohli [Opens in a new window]
Utkarsh Kohli*
Affiliation:
Department of Pediatric Cardiology, Division of Pediatrics, St. John Hospital and Medical Center, Detroit, MI, USA Assistant Professor of Pediatrics, Division of Pediatric Cardiology, Department of Pediatrics, University of Chicago School of Medicine, Chicago, IL, USA
*
Author for correspondence: U. Kohli, MD, Assistant Professor of Pediatrics, Department of Pediatric Cardiology, Division of Pediatrics, University of Chicago, 5481S Maryland Avenue, RM-C104E, MC 4051, Chicago, IL 60637, USA. Tel: 773-702-6172; Fax: 773-702-2319; E-mail: ukohli@peds.bsd.uchicago.edu
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Abstract

Kleefstra syndrome (chromosome 9q34.3 deletion) is a rare genetic disorder with less than 110 patients reported till date. We report a 4-month-old Caucasian girl with Kleefstra syndrome and Shone’s complex, an association which has not been previously reported. Surgical planning for patients with Kleefstra syndrome and complex CHD can pose challenges due to an uncertain natural history and a risk of post-operative pulmonary hypertension.

Keywords

Chromosome 9q34.3 deletionShone’s complexKleefstra syndrome
Type
Brief Report
Information
Cardiology in the Young , Volume 29 , Issue 2 , February 2019 , pp. 249 - 251
Copyright
© Cambridge University Press 2018 

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Footnotes

Cite this article: Kohli U. (2018) Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome). Cardiology in the Young page 249 of 251. doi: 10.1017/S104795111800210X

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