title: Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations.
abstract: 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.
authors: Critical Care Medicine, Akron Children's Hospital, Akron, Pa, USA.
authors: Kimberly
authors: K
authors: Baker
authors: Joan
authors: J
authors: Sanchez-de-Toledo
authors: Ricardo
authors: R
authors: Munoz
authors: Richard
authors: R
authors: Orr
authors: Shareen
authors: S
authors: Kiray
authors: Dana
authors: D
authors: Shiderly
authors: Michele
authors: M
authors: Clemens
authors: Peter
authors: P
authors: Wearden
authors: Victor O
authors: VO
authors: Morell
authors: Constantinos
authors: C
authors: Chrysostomou
mesh_terms: D059786:Abnormal Karyotype / Q000706:statistics & numerical data; D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000401:mortality; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D015331:Cohort Studies; D016638:Critical Illness / Q000453:epidemiology*; D005260:Female; D005820:Genetic Testing / Q000706:statistics & numerical data; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000401:mortality; D017052:Hospital Mortality; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal / Q000706:statistics & numerical data; D008297:Male; D008403:Mass Screening / Q000706:statistics & numerical data*; D015995:Prevalence; D012189:Retrospective Studies; D012307:Risk Factors; D014463:Ultrasonography