Children with genetic disorders undergoing open-heart surgery: Are they at increased risk for postoperative complications?*

Doell, Carsten; Bernet, Vera; Molinari, Luciano; Beck, Ingrid; Balmer, Christian; Latal, Beatrice

doi:10.1097/pcc.0b013e3181fe4085

Cited by 30 publications

(31 citation statements)

References 25 publications

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“…All of these findings are important and highlight the fact that 22q11.2DS results in increased morbidity, rather than mortality, in this particular patient population. 8,9, 25 The same may not be true in the more complicated cohort with major aorto-pulmonary collateral arteries requiring staged repairs as suggested by Mahle et al 7 …”

Section: Discussionmentioning

confidence: 95%

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22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

Mercer‐Rosa

Pinto

Yang

et al. 2013

The Journal of Thoracic and Cardiovascular Surgery

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Objectives We sought to investigate the impact of 22q11.2 deletion on perioperative outcome in tetralogy of Fallot. Methods We conducted a retrospective review of patients with tetralogy of Fallot who underwent complete surgical reconstruction at The Children’s Hospital of Philadelphia between 1995 and 2006. Inclusion criteria included diagnosis of tetralogy of Fallot and known genotype. Fisher’s exact and Mann Whitney tests were used for categorical and continuous variables, respectively. Regression analysis was used to determine whether deletion status predicts outcome. Results We studied 208 subjects with tetralogy of Fallot, 164 (79%) without, and 44 (20%) with a 22q11.2 deletion (22q11.2DS). There were no differences in sex, race, gestational age, age at diagnosis, admission weight, and duration of mechanical ventilation. Presenting anatomy, survival, complications and re-operations were also comparable between patients with and without 22q11.2DS. Those with 22q11.2DS had more aortopulmonary shunts preceding complete surgical repair (21% vs. 7%, p= 0.02). This association was present after adjustment for presenting anatomy (stenosis, atresia, or absence of pulmonary valve and common atrioventricular canal) and surgical era. In addition, those with 22q11.2DS had longer cardiopulmonary bypass time (84 vs. 72 minutes, p=0.02), and duration of intensive care (6 days vs. 4 days, p=0.007). Conclusions Genotype affects early operative outcomes in tetralogy of Fallot resulting, in particular, in longer duration of intensive care. Future studies are required to determine factors contributing to such differences in this susceptible population.

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Section: Discussionmentioning

confidence: 95%

“…7 In addition, non-cardiac abnormalities and malformation syndromes appear to be independent risk factors for prolonged intubation, re-intubation and longer intensive care duration. 8, 9 Therefore, factors related to genotype influence outcomes.…”

Section: Introductionmentioning

confidence: 99%

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

Mercer‐Rosa

Pinto

Yang

et al. 2013

The Journal of Thoracic and Cardiovascular Surgery

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“…It causes congenital heart disease (CHD), hypocalcaemia, cognitive disabilities and psychiatric disease, among other symptoms 1. Several authors have reported an increase in postoperative mortality in paediatric patients with CHD and 22q11DS compared with patients with non-syndromic CHD;2 3 however, this association appears to be controversial and has not been observed by other authors 4–6. In addition, sudden death in adults with 22q11DS has also been described 7.…”

Section: Introductionmentioning

confidence: 99%

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

et al. 2014

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ObjectiveChromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study evaluated the deletion's impact on survival and its clinical manifestations in a large cohort of Chilean patients.DesignDemographic and clinical data of individuals with 22q11 deletions diagnosed between 1998 and 2013 were collected from medical records and death certificates. Case fatality rate was calculated and compared with national vital statistics. OR with 95% CI analysis was used to assess the association between clinical manifestations and death.SettingGenetic services in tertiary care centres in Chile, following patients with 22q11.2 deletion.OutcomesFatality rate and associated factors.Results59 of 419 patients (14.1%) died during the study period at a median of 3.4 months (range 0 to 32 years of age). Factors associated with death included congenital heart disease (OR 5.27; 95% CI 2.06 to 13.99; p<0.0001), hypocalcaemia (OR 4.27; 95% CI 1.67 to 11.15; p<0.002) and airway malacia (OR 13.37; 95% CI 1.19 to 110.51; p<0.002). Patients with deletions and defects such as tetralogy of Fallot with or without pulmonary atraesia, truncus arteriosus or ventricular septal defect, had a 2.6-fold to 4.6-fold higher death rate compared with nationwide reports for the same types of defects.ConclusionsIn this cohort, we observed a death rate of 14.1%, implying that one in seven patients with 22q11 deletion died during the study period. Significant associations with cardiac defects, hypocalcaemia and airway malacia were observed. Furthermore, the death risk in patients with 22q11 deletion and cardiac defects exceeded the global figures observed in Chile for infants with structurally similar but apparently isolated anomalies. These observations indicate a need to identify patients who may require specific perioperative management to improve survival.

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“…The clinicians, by contrast, believed that the trisomy 18 diagnosis could not be separated from decisions about intensive care and surgery, because aneuploidy and growth restriction are known predictors of perioperative morbidity and mortality. 15,16 Some clinicians thought that the infant' s chance of survival was so low that it did not outweigh the potential pain associated with cardiac surgery and multiple intensive care interventions, pain that cannot be perfectly controlled despite the best of intentions. These clinicians also were concerned about the burden of suffering for the infant who would experience cold stress, noise, perturbed sleep-wake cycles, limited holding, and impaired bonding.…”

Section: The Fetal Medicine Team's Responsementioning

confidence: 99%

Trisomy 18 and Complex Congenital Heart Disease: Seeking the Threshold Benefit

et al. 2013

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A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18. The parents requested that the genetic diagnosis be excluded from all medical and surgical decision-making and that all life-prolonging therapies be made available to their infant. There was conflict among the medical team about what threshold of neonatal benefit could outweigh maternal and neonatal treatment burdens. A prenatal ethics consultation was requested.

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Children with genetic disorders undergoing open-heart surgery: Are they at increased risk for postoperative complications?*

Cited by 30 publications

References 25 publications

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

Trisomy 18 and Complex Congenital Heart Disease: Seeking the Threshold Benefit

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