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Array CGH as a first-tier test for neonates with congenital heart disease
- Kristine K. Bachman, Stephanie J. DeWard, Constantinos Chrysostomou, Ricardo Munoz, Suneeta Madan-Khetarpal
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- Journal:
- Cardiology in the Young / Volume 25 / Issue 1 / January 2015
- Published online by Cambridge University Press:
- 06 November 2013, pp. 115-122
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Objective
Efficient diagnosis of an underlying genetic aetiology in a patient with congenital heart disease is essential to optimising clinical care. Copy number variants are one aetiology of congenital heart disease; the majority are identifiable by targeted fluorescence in situ hybridisation or array comparative genomic hybridisation, not by classical cytogenetic analysis. This study assessed the utility of array comparative genomic hybridisation as a first-tier diagnostic test for neonates with congenital heart disease.
Study designA prospective chart review of neonates with congenital heart disease in the Cardiac Intensive Care Unit at Children’s Hospital of Pittsburgh of UPMC was performed. Patients were tested by array comparative genomic hybridisation and classical cytogenetic analysis simultaneously. Data collected included all chromosome abnormalities detected, physical examination findings, and imaging results. McNemar’s test was used to compare detection of array comparative genomic hybridisation and classical cytogenetic analysis.
ResultsOf 45 patients, three (6.7%) had an abnormality detected by classical cytogenetic analysis and an additional 10 (22.2%) had a copy number variant detected by array comparative genomic hybridisation, highlighting an increased detection rate (p=0.008). Several of these copy number variants had unclear clinical significance, requiring additional investigation. The prevalence of dysmorphology and/or comorbidity in this population was 72%. Identification of dysmorphic features was greater when assessed by a geneticist than by providers of different subspecialties.
ConclusionsArray comparative genomic hybridisation has significant clinical utility as a first-tier test in this population, but it carries the potential for incidental findings and results of uncertain clinical significance. Collaboration between cardiologists and medical geneticists is essential to providing optimal clinical care.
Do neonates, infants and young children need a higher dose of enoxaparin in the cardiac intensive care unit?
- Joan Sanchez de Toledo, Sriya Gunawardena, Ricardo Munoz, Richard Orr, Donald Berry, Sara Sonderman, Sara Krallman, Dana Shiderly, Li Wang, Peter Wearden, Victor O. Morell, Constantinos Chrysostomou
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- Journal:
- Cardiology in the Young / Volume 20 / Issue 2 / April 2010
- Published online by Cambridge University Press:
- 04 March 2010, pp. 138-143
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Background
Thromboembolic events are a serious complication occurring in critically ill children admitted to the cardiac intensive care unit. Although enoxaparin is one of the current anticoagulants of choice, dosages in children are extrapolated from adult guidelines. Recent data suggest that this population may need a higher dose than what is currently recommended to achieve target anti-factor Xa levels. The purpose of this study was to evaluate whether children less than 2 years old admitted to the cardiac intensive care unit require a higher enoxaparin dose than that currently recommended to achieve target anti-factor Xa levels.
MethodsRetrospective chart review including patients who received enoxaparin for the treatment or prophylaxis of venous thrombosis between January, 2005 and October, 2007. Patients were classified as younger and older as well as prophylactic and therapeutic on the basis of age and enoxaparin dose, respectively. Younger patients were those 2 month old or less and older patients were those older than 2 months of age.
ResultsA total of 31 patients were identified; 13 (42%) were 2 months or younger and 25 (81%) were postoperative patients. Ten (32%) received prophylactic and 21 (68%) received therapeutic enoxaparin doses. To achieve optimal anti-factor Xa levels, enoxaparin dose was increased in all groups and reached statistical significance in all patients except those older than 2 months who received prophylactic enoxaparin. An average of 2.8 dosage adjustments was needed. No bleeding complications were reported.
ConclusionsYoung children, infants, and neonates admitted to the cardiac intensive care unit required a significantly higher enoxaparin dose than that currently recommended to achieve target anti-factor Xa levels.