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Cardiogenetics
Volume 5
Issue 1
10.4081/cardiogenetics.2015.5511
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Brief Report

Persistent Left Superior Vena Cava: An Overlooked Feature of CHARGE Syndrome?

by
Paula Goldenberg
1,*,
Amy Shikany
2,
Ashley Parrott
2,
Stephanie M. Ware
3 and
Robert B. Hinton
2
1
Medical Genetics, Division of Pediatrics, Massachusetts General Hospital, Boston, MA, USA
2
Heart Institute, Division of Cardiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
3
Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA
*
Author to whom correspondence should be addressed.
Cardiogenetics 2015, 5(1), 5511; https://doi.org/10.4081/cardiogenetics.2015.5511
Submission received: 9 September 2015 / Revised: 12 November 2015 / Accepted: 22 November 2015 / Published: 19 December 2015

Abstract

CHARGE is a well-characterized syndrome (OMIM 2148400) associated with multiple congenital anomalies including cardiovascular malformations. Mutations in CHD7 are the most common cause of CHARGE syndrome. Persistent left superior vena cava (LSVC) has been described in patients with CHARGE syndrome in one study of LSVC associations. A retrospective chart review was conducted for all patients with CHARGE syndrome, diagnosed by Blake criterion features and/or the presence of a pathogenic CHD7 mutation. Echocardio - grams were performed on a clinical basis for all patients and were systematically reviewed and classified. Persistent LSVC was present in 50% of patients with CHARGE syndrome (4/8) and was seen in 3 out of 33 patients seen by cardiovascular genetics with 22q11.2 deletion syndrome. Persistent LSVC is a common finding in patients with CHARGE syndrome and its presence may increase the index of suspicion in patients with other characteristic congenital anomalies.
Keywords: CHARGE syndrome; CHD7; persistent left superior vena cava; bilateral superior vena cava; congenital heart defects CHARGE syndrome; CHD7; persistent left superior vena cava; bilateral superior vena cava; congenital heart defects

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MDPI and ACS Style

Goldenberg, P.; Shikany, A.; Parrott, A.; Ware, S.M.; Hinton, R.B. Persistent Left Superior Vena Cava: An Overlooked Feature of CHARGE Syndrome? Cardiogenetics 2015, 5, 5511. https://doi.org/10.4081/cardiogenetics.2015.5511

AMA Style

Goldenberg P, Shikany A, Parrott A, Ware SM, Hinton RB. Persistent Left Superior Vena Cava: An Overlooked Feature of CHARGE Syndrome? Cardiogenetics. 2015; 5(1):5511. https://doi.org/10.4081/cardiogenetics.2015.5511

Chicago/Turabian Style

Goldenberg, Paula, Amy Shikany, Ashley Parrott, Stephanie M. Ware, and Robert B. Hinton. 2015. "Persistent Left Superior Vena Cava: An Overlooked Feature of CHARGE Syndrome?" Cardiogenetics 5, no. 1: 5511. https://doi.org/10.4081/cardiogenetics.2015.5511

APA Style

Goldenberg, P., Shikany, A., Parrott, A., Ware, S. M., & Hinton, R. B. (2015). Persistent Left Superior Vena Cava: An Overlooked Feature of CHARGE Syndrome? Cardiogenetics, 5(1), 5511. https://doi.org/10.4081/cardiogenetics.2015.5511

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