Document Detail

Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations.
MedLine Citation:
PMID:  22070653     Owner:  NLM     Status:  MEDLINE    
Objective.  Infants with critical congenital heart disease (CHD) can have genetic and other extracardiac malformations, which add to the short- and long-term risk of morbidity and perhaps mortality. We sought to examine our center's practice of screening for extracardiac anomalies and to determine the yield of these tests among specific cardiac diagnostic categories. Design.  Retrospective review of infants admitted to the cardiac intensive care unit with a new diagnosis of CHD. Subjects were categorized into six groups: septal defects (SD), conotruncal defects (CTD), single-ventricle physiology (SV), left-sided obstructive lesions (LSO), right-sided obstructive lesions (RSO), and "other" (anomalous pulmonary venous return, Ebstein's anomaly). Screening modalities included genetic testing (karyotype and fluorescent in situ hybridization for 22q11.2 deletion), renal ultrasound (RUS), and head ultrasound (HUS). Results.  One hundred forty-one patients were identified. The incidence of cardiac anomalies was: CTD (36%), SD (18%), SV (18%), LSO (14%), RSO (3%), and "other" (8%). Overall 14% had an abnormal karyotype, 5% had a deletion for 22q11.2, 28% had an abnormal RUS and 22% had abnormal HUS. Patients in SD and SV had the highest incidence of abnormal karyotype (36% and 17%); 22q11.2 deletion was present only in CTD and LSO groups (9% and 7%, respectively); abnormal RUS and HUS were seen relatively uniformly in all categories. Premature infants had significantly higher incidence of renal 43% vs. 24%, and intracranial abnormalities 46% vs. 16%. Conclusion.  Infants with critical CHD and particularly premature infants have high incidence of genetic and other extracardiac anomalies. Universal screening for these abnormalities with ultrasonographic and genetic testing maybe warranted because early detection could impact short and long-term outcomes.
Kimberly Baker; Joan Sanchez-de-Toledo; Ricardo Munoz; Richard Orr; Shareen Kiray; Dana Shiderly; Michele Clemens; Peter Wearden; Victor O Morell; Constantinos Chrysostomou
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2011-11-09
Journal Detail:
Title:  Congenital heart disease     Volume:  7     ISSN:  1747-0803     ISO Abbreviation:  Congenit Heart Dis     Publication Date:    2012 Mar-Apr
Date Detail:
Created Date:  2012-03-27     Completed Date:  2012-07-24     Revised Date:  2013-06-27    
Medline Journal Info:
Nlm Unique ID:  101256510     Medline TA:  Congenit Heart Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  145-50     Citation Subset:  IM    
Copyright Information:
© 2011 Wiley Periodicals, Inc.
Critical Care Medicine, Akron Children's Hospital, Akron, Pa, USA.
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MeSH Terms
Abnormal Karyotype / statistics & numerical data
Abnormalities, Multiple / genetics,  mortality,  ultrasonography
Brain / abnormalities
Chromosome Aberrations / statistics & numerical data*
Cohort Studies
Critical Illness / epidemiology*
Genetic Testing / statistics & numerical data
Gestational Age
Heart Defects, Congenital / genetics*,  mortality,  ultrasonography*
Hospital Mortality
Infant, Newborn
Intensive Care Units, Neonatal / statistics & numerical data
Mass Screening / statistics & numerical data*
Retrospective Studies
Risk Factors
Grant Support

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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