title: High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 1Divison of Medical Genetics,Massachusetts General Hospital,Boston,Massachusetts,United States of America.
authors.forename: Paula C
authors.initials: PC
authors.lastname: Goldenberg
authors.affiliation: 2The Heart Institute,Cincinnati Children's Hospital Medical Center,Cincinnati, Ohio,United States of America.
authors.forename: Betsy J
authors.initials: BJ
authors.lastname: Adler
authors.affiliation: 3Division of Cardiology,Cincinnati Children's Hospital Medical Center Cincinnati,Ohio,United States of America.
authors.forename: Ashley
authors.initials: A
authors.lastname: Parrott
authors.affiliation: 4Division of Developmental and Behavioral Pediatrics,Cincinnati Children's Hospital,Cincinnati,Ohio,United States of America.
authors.forename: Julia
authors.initials: J
authors.lastname: Anixt
authors.affiliation: 4Division of Developmental and Behavioral Pediatrics,Cincinnati Children's Hospital,Cincinnati,Ohio,United States of America.
authors.forename: Karen
authors.initials: K
authors.lastname: Mason
authors.affiliation: 5Division of Neuropsychology,Henry Ford Hospital,Detroit,Michigan,United States of America.
authors.forename: Jannel
authors.initials: J
authors.lastname: Phillips
authors.affiliation: 3Division of Cardiology,Cincinnati Children's Hospital Medical Center Cincinnati,Ohio,United States of America.
authors.forename: David S
authors.initials: DS
authors.lastname: Cooper
authors.affiliation: 6Departments of Pediatrics and Medical and Molecular Genetics,Indiana University School of Medicine,Indianapolis,Indiana,United States of America.
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Ware
authors.affiliation: 7Division of Cardiology,Lurie Children's Hospital,Chicago,Illinois,United States of America.
authors.forename: Bradley S
authors.initials: BS
authors.lastname: Marino
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006331:Heart Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006782:Hospitals, Special; D006801:Humans; D007223:Infant; D008297:Male; D065886:Neurodevelopmental Disorders / Q000175:diagnosis / Q000209:etiology*; D012189:Retrospective Studies
keywords: Genetic evaluation; development; heart defects; medical