Faculty Collaboration Database

Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery. Pediatr Res 2016 Feb;79(2):318-24

Date

10/23/2015

Pubmed ID

26492284

Pubmed Central ID

PMC5114022

DOI

10.1038/pr.2015.216

Scopus ID

2-s2.0-84982285447 (requires institutional sign-in at Scopus site)   28 Citations

Abstract

BACKGROUND: Postsurgical bleeding causes significant morbidity and mortality in children undergoing surgery for congenital heart defects (CHD). 22q11.2 deletion syndrome (DS) is the second most common genetic risk factor for CHD. The deleted segment of chromosome 22q11.2 encompasses the gene encoding glycoprotein (GP) Ibβ, which is required for expression of the GPIb-V-IX complex on the platelet surface, where it functions as the receptor for von Willebrand factor (VWF). Binding of GPIb-V-IX to VWF is important for platelets to initiate hemostasis. It is not known whether hemizygosity for the gene encoding GPIbβ increases the risk for bleeding following cardiac surgery for patients with 22q11.2 DS.

METHODS: We performed a case-control study of 91 pediatric patients who underwent cardiac surgery with cardiopulmonary bypass from 2004 to 2012 at Children's Hospital of Wisconsin.

RESULTS: Patients with 22q11.2 DS had larger platelets and lower platelet counts, bled more excessively, and received more transfusion support with packed red blood cells in the early postoperative period relative to control patients.

CONCLUSION: Presurgical genetic testing for 22q11.2 DS may help to identify a subset of pediatric cardiac surgery patients who are at increased risk for excessive bleeding and who may require more transfusion support in the postoperative period.

Author List

Brenner MK, Clarke S, Mahnke DK, Simpson P, Bercovitz RS, Tomita-Mitchell A, Mitchell ME, Newman DK

Authors

Michelle Brenner in the CTSI department at Medical College of Wisconsin - CTSI
Donna K. Mahnke Research Scientist I in the Pediatrics department at Medical College of Wisconsin
Aoy Tomita Mitchell PhD Professor in the Surgery department at Medical College of Wisconsin
Michael Edward Mitchell MD Chief, Professor in the Surgery department at Medical College of Wisconsin
Debra K. Newman PhD Investigator in the Blood Research Institute department at BloodCenter of Wisconsin
Debra K. Newman PhD Professor in the Pharmacology and Toxicology department at Medical College of Wisconsin
Pippa M. Simpson PhD Adjunct Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Cardiac Surgical Procedures
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 22
DiGeorge Syndrome
Erythrocyte Transfusion
Female
Genetic Association Studies
Genetic Predisposition to Disease
Heart Defects, Congenital
Hospitals, Pediatric
Humans
Infant
Infant, Newborn
Male
Phenotype
Postoperative Hemorrhage
Retrospective Studies
Risk Factors
Treatment Outcome
Wisconsin