22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch

O’Byrne, Michael L.; Yang, Wei; Mercer‐Rosa, Laura; Parnell, Aimee S.; Oster, Matthew E.; Levenbrown, Yosef; Tanel, Ronn E.; Goldmuntz, Elizabeth

doi:10.1016/j.jtcvs.2014.02.011

Cited by 66 publications

(60 citation statements)

References 29 publications

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“…In the current study, underweight patients underwent more complicated operations, suggesting more severe heart disease or at the very least an intrinsically higher risk of undesirable outcome. They were also more likely to have increased risk of genetic syndromes and anatomic abnormalities, which have also been shown in other studies to be associated independently with worse perioperative outcome 16,40,41 . Pre-operative symptom scores (e.g.…”

Section: Discussionsupporting

confidence: 72%

Effect of Obesity and Underweight Status on Perioperative Outcomes of Congenital Heart Operations in Children, Adolescents, and Young Adults

et al. 2017

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Background Extreme BMI (either very high or very low) has been associated with increased risk of adverse perioperative outcome in adults undergoing cardiac surgery. The effect of body-mass index (BMI) on perioperative outcomes in congenital heart disease patients has not been evaluated. Methods A multicenter retrospective cohort study was performed studying patients 10–35 years undergoing a congenital heart disease operation in the Society of Thoracic Surgeons Congenital Heart Surgery Database between 1/1/2010–12/31/2015. The primary outcomes were operative mortality and a composite outcome (one or more of operative mortality, major adverse event, prolonged hospital length of stay, and wound infection/dehiscence). The associations between age and sex-adjusted BMI percentiles and these outcomes were assessed, adjusting for patient level risk factors, using multivariate logistic regression. Results Of 18,337 patients (118 centers), 16% were obese, 15% overweight, 53% normal weight, 7% underweight and 9% were severely underweight. Observed risks of operative mortality (p=0.04) and composite outcome (p<0.0001) were higher in severely underweight and obese subjects. Severely underweight BMI was associated with increased unplanned cardiac operation and reoperation for bleeding. Obesity was associated with increased risk of wound infection. In multivariable analysis, the association between BMI and operative mortality was no longer significant. Obese (OR: 1.28 p=0.008), severely underweight (OR: 1.29 p<0.0001) and underweight subjects (OR: 1.39 p=0.002) subjects were associated with increased risk of composite outcome. Conclusion Obesity and underweight BMI were associated with increased risk of composite adverse outcome independent of other risk factors. Further research is necessary to determine whether BMI represents a modifiable risk factor for perioperative outcome.

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Section: Discussionsupporting

confidence: 72%

Effect of Obesity and Underweight Status on Perioperative Outcomes of Congenital Heart Operations in Children, Adolescents, and Young Adults

et al. 2017

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“…Presence of a genetic syndrome was associated with younger age at PVR, longer hospital LOS, longer ICU LOS, and increased cost. The observed increased LOS and resource utilization is consistent with previous studies of perioperative outcomes in infants and younger children with 22q11.2 microdeletion 25,26 . TC-PVR was associated with reduced hospital LOS, but was not associated with significant reduction in cost compared with S-PVR.…”

Section: Discussionsupporting

confidence: 90%

Trends in Pulmonary Valve Replacement in Children and Adults With Tetralogy of Fallot

O’Byrne

Glatz

Mercer‐Rosa

et al. 2015

The American Journal of Cardiology

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Operative correction of tetralogy of Fallot (TOF) frequently results in pulmonary insufficiency and chronic volume overload that have been linked to increased risk of adverse outcome. No consensus recommendations for timing of pulmonary valve replacement (PVR) exist. We examined the pattern of PVR in the US from 2004 to 2012. We used The Pediatric Health Information Systems Database to perform an observational study of children and adults, age ≥10 years with a diagnosis of TOF undergoing PVR at 35 centers in the United States between 2004 and 2012, to assess the rate of PVR and the age at which is performed. Mixed effects multivariable regression was used to account for patient-level covariates and center-level covariance. Additional analyses assessed for trends in cost, hospital length of stay (LOS), intensive care unit LOS, and in-hospital mortality over the study period. In total, 799 subjects at 35 centers underwent PVR over the study period. The number of PVR performed per year increased significantly over the study period. There was significant between-center heterogeneity in age at PVR (p<0.001). Age at PVR, intensive care unit LOS, hospital LOS, and cost did not change over the study period. In conclusion, PVR in TOF is being performed more frequently, without an accompanying change in the age at PVR or other measurable outcomes. There is significant variability in the age at which PVR is performed between centers across the United States. This highlights the need for additional research guiding the optimal timing of PVR.

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“…CHD is typically diagnosed prenatally or during the first days to months of life 199–202 . The diagnostic tools and surgical treatment are, in general, the same as for any child with CHD 199,200 .…”

Section: Managementmentioning

confidence: 99%

“…The diagnostic tools and surgical treatment are, in general, the same as for any child with CHD 199,200 . However, 22q11.2DS is associated with longer hospital stays, greater resource use and more medications at discharge 201,202 . Specific perioperative care should be focused on the prevention of hypocalcaemia, immunological depression, vasomotor instability, bronchospasm and airway bleeding 199,201,202 .…”

Section: Managementmentioning

confidence: 99%

“…However, 22q11.2DS is associated with longer hospital stays, greater resource use and more medications at discharge 201,202 . Specific perioperative care should be focused on the prevention of hypocalcaemia, immunological depression, vasomotor instability, bronchospasm and airway bleeding 199,201,202 . In addition to standard antimicrobial prophylaxis, an antifungal agent may be considered 199 .…”

Section: Managementmentioning

confidence: 99%

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22q11.2 deletion syndrome

McDonald‐McGinn

Sullivan

Marino

et al. 2015

Nat Rev Dis Primers

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1,133

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22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population.

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22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch

Cited by 66 publications

References 29 publications

Effect of Obesity and Underweight Status on Perioperative Outcomes of Congenital Heart Operations in Children, Adolescents, and Young Adults

Effect of Obesity and Underweight Status on Perioperative Outcomes of Congenital Heart Operations in Children, Adolescents, and Young Adults

Trends in Pulmonary Valve Replacement in Children and Adults With Tetralogy of Fallot

22q11.2 deletion syndrome

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