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An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion

Part of: Echocardiography

Published online by Cambridge University Press:  18 January 2021

Niall Linnane Open the ORCID record for Niall Linnane [Opens in a new window] ,
Andrew Green  and
Colin J. McMahon Open the ORCID record for Colin J. McMahon [Opens in a new window]
Niall Linnane*
Affiliation:
Department of Cardiology and Cardiothoracic Surgery, Children’s Health Ireland at Crumlin, Dublin, Ireland
Andrew Green
Affiliation:
Department of Clinical Genetics, Children’s Health Ireland at Crumlin, Dublin, Ireland School of Medicine and Medical Science, University College Dublin, Dublin, Ireland
Colin J. McMahon
Affiliation:
Department of Cardiology and Cardiothoracic Surgery, Children’s Health Ireland at Crumlin, Dublin, Ireland
*
Author for correspondence: Dr N. Linnane, Department of Paediatric Cardiology, Children’s Health Ireland at Crumlin, Dublin 12, Ireland. Tel: +35314096100; Fax: +35314096181. E-mail: niall.p.linnane@gmail.com
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Abstract

16p12.2 microdeletion has been associated with congenital heart defects and developmental delay. In this case, we describe the rare association between tetralogy of Fallot with an absent pulmonary valve a right-sided aortic arch and a retro-aortic innominate vein associated with a 16p12.2 microdeletion and epilepsy.

Keywords

tetralogy of Fallotabsent pulmonary valvecongenital heart diseaseinnominate vein
Type
Brief Report
Information
Cardiology in the Young , Volume 31 , Issue 5 , May 2021 , pp. 836 - 837
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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References

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Girirajan, S, Rosenfeld, JA. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010; 42: 203–209.CrossRefGoogle ScholarPubMed
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