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Pediatric Sub-specialist Controversies in the Treatment of Congenital Heart Disease in Trisomy 13 or 18

  • Andrew R. YatesEmail author
  • Timothy M. Hoffman
  • Edward Shepherd
  • Bethany Boettner
  • Kim L. McBride
Original Research

Abstract

Trisomy 13 and 18 are associated with congenital heart disease. Cardiac palliation has been reported in the literature, but is not usually done in this population. Thus, a multi-disciplinary team may experience controversy in formulating a care plan that includes cardiac intervention. Our objective was to determine differences in recommendations for cardiac intervention in this population between physicians specializing in pediatric cardiac critical care, neonatology, and genetics. A web-based survey was performed between April 2007 and August 2008. This survey evaluated surgical and transcatheter cardiac palliations that had been performed for individuals with trisomy 13 or 18 at the respondent’s institution, the respondent’s recommendations for cardiac intervention in hypothetical symptomatic patients with trisomy 13 or trisomy 18 and the influence of parental preference on these recommendations. Eight hundred fifty-nine responses were obtained from a primarily academic practice setting (59%). Cardiologists were most likely to recommend intervention; low risk interventions were recommended by 32% of cardiologists, 7% of neonatologists and 20% of geneticists. Parental request to intervene resulted in a 3 fold increased in the likelihood of all specialist recommending intervention. Counseling of families frequently occurred by multiple sub specialists (50%) and there was frequently (71%) a difference in opinion. Individuals with trisomy 13 or 18 are receiving cardiac intervention at many institutions. Cardiologists were more likely than geneticists or neonatologists to recommend intervention on all heart lesions other than single ventricle palliation which no specialists recommended. Parental wishes that “everything be done” significantly influenced all specialists’ recommendations.

Keywords

Trisomy 13 Trisomy 18 Congenital heart disease Survey Subspecialists 

Abbreviations

T13

Trisomy 13

T18

Trisomy 18

CHD

Congenital heart disease

VSD

Ventricular septal defect

PDA

Patent ductus arteriosus

ASD

Atrial septal defect

TOF

Tetralogy of Fallot

AVC

Atrioventricular canal defect

PA

Pulmonary artery

Notes

Acknowledgments

The authors wish to thank Mrs. Sara Fitzgerald-Butt, MS, CGC for her critical review and editorial support of the manuscript.

Financial Disclosures

None

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Copyright information

© National Society of Genetic Counselors, Inc. 2011

Authors and Affiliations

  • Andrew R. Yates
    • 1
    • 2
    • 5
    Email author
  • Timothy M. Hoffman
    • 1
    • 2
  • Edward Shepherd
    • 1
    • 3
  • Bethany Boettner
    • 1
  • Kim L. McBride
    • 4
    • 6
  1. 1.Nationwide Children’s Hospital and Research InstituteColumbusUSA
  2. 2.Department of Pediatrics, Section of CardiologyThe Ohio State University College of MedicineColumbusUSA
  3. 3.Department of Pediatrics, Section of NeonatologyThe Ohio State University College of MedicineColumbusUSA
  4. 4.Department of Pediatrics, Section of GeneticsThe Ohio State University College of MedicineColumbusUSA
  5. 5.Divisions of Cardiology and Critical Care MedicineNationwide Children’s HospitalColumbusUSA
  6. 6.Center for Molecular and Human Genetics, Nationwide Children’s Hospital and Research InstituteColumbusUSA

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