Hostname: page-component-586b7cd67f-t8hqh Total loading time: 0 Render date: 2024-11-24T09:44:55.507Z Has data issue: false hasContentIssue false
  • English
  • Français

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: [email protected]
Get access Rights & Permissions [Opens in a new window]

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
Check for updates
Copyright
© Cambridge University Press 2016 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Pierpont, ME, Basson, CT, Benson, DW, et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007; 115: 3015–3038.Google Scholar
2. Hoffman, JI, Kaplan, S, Liberthson, RR. Prevalence of congenital heart disease. Am Heart J 2004; 147: 425–439.Google Scholar
3. Marino, BS, Lipkin, PH, Newburger, JW, et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation 2012; 126: 1143–1172.Google Scholar
4. Cheng, HH, Wypij, D, Laussen, PC, et al. Cerebral blood flow velocity and neurodevelopmental outcome in infants undergoing surgery for congenital heart disease. Ann Thorac Surg 2014; 98: 125–132.Google Scholar
5. Ferencz, C, Neill, CA, Boughman, JA, et al. Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J Pediatr 1989; 114: 79–86.CrossRefGoogle ScholarPubMed
6. Fuller, S, Nord, AS, Gerdes, M, et al. Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. Eur J Cardiothorac Surg 2009; 36: 40–47.CrossRefGoogle ScholarPubMed
7. Kaltman, JR, Jarvik, GP, Bernbaum, J, et al. Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction. J Thorac Cardiovasc Surg 2006; 131: 792–798.Google Scholar
8. Zeltser, I, Jarvik, GP, Bernbaum, J, et al. Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. J Thorac Cardiovasc Surg 2008; 135: 91–97.CrossRefGoogle ScholarPubMed
9. Rauch, R, Rauch, A, Koch, A, et al. Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes? Eur J Pediatr 2004; 163: 642–645.Google Scholar
10. Niikawa, N, Matsuura, N, Fukushima, Y, et al. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981; 99: 565–569.Google Scholar
11. Blake, KD, Davenport, SL, Hall, BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr 1998; 37: 159–173.Google Scholar
12. Loeys, BL, Dietz, HC, Braverman, AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476–485.Google Scholar
13. StataCorp. Stata Statistical Software: Release 11. StataCorp LP, College Station, TX, 2009.Google Scholar
14. Bassett, AS, McDonald-McGinn, DM, Devriendt, K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159: 332–339.CrossRefGoogle ScholarPubMed
15. Romano, AA, Allanson, JE, Dahlgren, J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126: 746–759.CrossRefGoogle ScholarPubMed
16. Committee on Genetics. American Academy of Pediatrics: health care supervision for children with Williams syndrome. Pediatrics 2001; 107: 1192–1204.Google Scholar
17. American Academy of Pediatrics (AAP). Asplenia. In: Pickering, LK BC, Kimberlin, DW, Long, SS, (eds.). Red Book: 2009 Report of the Committee on Infectious Diseases. American Academy of Pediatrics, Elk Grove Village, IL, 2009: 84–86.Google Scholar
18. Evangelista, A. Bicuspid aortic valve and aortic root disease. Curr Cardiol Rep 2011; 13: 234–241.Google Scholar
19. McBride, KL, Zender, GA, Fitzgerald-Butt, SM, et al. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet 2009; 17: 811–819.CrossRefGoogle ScholarPubMed
20. Calloway, TJ, Martin, LJ, Zhang, X, et al. Risk factors for aortic valve disease in bicuspid aortic valve: a family-based study. Am J Med Genet A 2011; 155A: 1015–1020.Google Scholar
21. Hinton, RB Jr, Martin, LJ, Tabangin, ME, et al. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol 2007; 50: 1590–1595.Google Scholar
22. Warnes, CA, Williams, RG, Bashore, TM, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: Executive Summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines for the management of adults with congenital heart disease). Circulation 2008; 118: 2395–2451.Google Scholar
23. Kindel, SJ, Miller, EM, Gupta, R, et al. Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. J Card Fail 2012; 18: 396–403.CrossRefGoogle ScholarPubMed
24. Hershberger, RE, Lindenfeld, J, Mestroni, L, et al. Genetic evaluation of cardiomyopathy – a Heart Failure Society of America practice guideline. J Card Fail 2009; 15: 83–97.Google Scholar