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High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic

Published online by Cambridge University Press:  19 September 2016

Paula C. Goldenberg ,
Betsy J. Adler ,
Ashley Parrott ,
Julia Anixt ,
Karen Mason ,
Jannel Phillips ,
David S. Cooper ,
Stephanie M. Ware  and
Bradley S. Marino
Paula C. Goldenberg*
Affiliation:
Divison of Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts, United States of America
Betsy J. Adler
Affiliation:
The Heart Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
Ashley Parrott
Affiliation:
Division of Cardiology, Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio, United States of America
Julia Anixt
Affiliation:
Division of Developmental and Behavioral Pediatrics, Cincinnati Children’s Hospital, Cincinnati, Ohio, United States of America
Karen Mason
Affiliation:
Division of Developmental and Behavioral Pediatrics, Cincinnati Children’s Hospital, Cincinnati, Ohio, United States of America
Jannel Phillips
Affiliation:
Division of Neuropsychology, Henry Ford Hospital, Detroit, Michigan, United States of America
David S. Cooper
Affiliation:
Division of Cardiology, Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio, United States of America
Stephanie M. Ware
Affiliation:
Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States of America
Bradley S. Marino
Affiliation:
Division of Cardiology, Lurie Children’s Hospital, Chicago, Illinois, United States of America
*
Correspondence to: P. Goldenberg, MD, Medical Genetics, Massachusetts General Hospital, 175 Cambridge Avenue, 5th Floor, Suite 505, Boston, MA 02114, United States of America. Tel: +617 726 1742; Fax: +617 724 1911; E-mail: pgoldenberg2@partners.org
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Abstract

Background

There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic.

Objective

This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic.

Methods

A retrospective chart review was conducted of patients evaluated in a cardiac neurodevelopmental clinic from 6 December, 2011 to 16 April, 2013. All patients were seen by a cardiovascular geneticist with genetic counselling support.

Results

A total of 214 patients were included in this study; 64 of these patients had a pre-existing genetic or syndromic diagnosis. Following genetics evaluation, an additional 19 were given a new clinical or laboratory-confirmed genetic diagnosis including environmental such as teratogenic exposures, malformation associations, chromosomal disorders, and single-gene disorders. Genetic testing was recommended for 112 patients; radiological imaging to screen for congenital anomalies for 17 patients; subspecialist medical referrals for 73 patients; and non-genetic clinical laboratory testing for 14 patients. Syndrome-specific guidelines were available and followed for 25 patients with known diagnosis. American Academy of Pediatrics Red Book asplenia guideline recommendations were given for five heterotaxy patients, and family-based cardiac screening was recommended for 23 families affected by left ventricular outflow tract obstruction.

Conclusion

Genetics involvement in a cardiac neurodevelopmental clinic is helpful in identifying new unifying diagnoses and providing syndrome-specific care, which may impact the patient’s overall health status and neurodevelopmental outcome.

Keywords

Genetic evaluationmedicalheart defectsdevelopment
Type
Original Articles
Information
Cardiology in the Young , Volume 27 , Issue 3 , March 2017 , pp. 459 - 466
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Copyright
© Cambridge University Press 2016 

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