Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium)

doi:10.1016/j.amjcard.2003.12.012

The American Journal of Cardiology

Volume 93, Issue 6, 15 March 2004, Pages 801-803

https://doi.org/10.1016/j.amjcard.2003.12.012 Get rights and content

Abstract

Because of severely reduced lifespan in children with trisomies 13 and 18, surgical repair of congenital heart lesions has rarely been offered. With data from a multicenter registry, we report 35 cases of cardiac surgery in infants and children with trisomy 13 or 18 with a 91% hospital survival rate. Those patients without an extended preoperative ventilatory requirement did not require prolonged mechanical ventilation after surgery.

References (11)

N.N. Musewe et al.
Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18
J Am Coll Cardiol
(1990)
S. Van Praagh et al.
Cardiac malformations in trisomy-18a study of 41 postmortem cases
J Am Coll Cardiol
(1989)
B.J. Baty et al.
Natural history of trisomy 18 and trisomy 13I. Growth, physical assessment, medical histories, survival, and recurrence risk
Am J Med Genet
(1994)
N.D. Embleton et al.
Natural history of trisomy 18
Arch Dis Child
(1996)
R.A. Martlew et al.
Anaesthesia in a child with Patau's syndrome
Anaesthesia
(1995)

There are more references available in the full text version of this article.

Cited by (103)

The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect
2024, Journal of Thoracic and Cardiovascular Surgery
Recommendations for surgical repair of a congenital heart defect in children with trisomy 13 or trisomy 18 remain controversial, are subject to biases, and are largely unsupported with limited empirical data. This has created significant distrust and uncertainty among parents and could potentially lead to suboptimal care for patients. A working group, representing several clinical specialties involved with the care of these children, developed recommendations to assist in the decision-making process for congenital heart defect care in this population. The goal of these recommendations is to provide families and their health care teams with a framework for clinical decision making based on the literature and expert opinions.
This project was performed under the auspices of the AATS Congenital Heart Surgery Evidence-Based Medicine Taskforce. A Patient/Population, Intervention, Comparison/Control, Outcome process was used to generate preliminary statements and recommendations to address various aspects related to cardiac surgery in children with trisomy 13 or trisomy 18. Delphi methodology was then used iteratively to generate consensus among the group using a structured communication process.
Nine recommendations were developed from a set of initial statements that arose from the Patient/Population, Intervention, Comparison/Control, Outcome process methodology following the groups' review of more than 500 articles. These recommendations were adjudicated by this group of experts using a modified Delphi process in a reproducible fashion and make up the current publication. The Class (strength) of recommendations was usually Class IIa (moderate benefit), and the overall level (quality) of evidence was level C-limited data.
This is the first set of recommendations collated by an expert multidisciplinary group to address specific issues around indications for surgical intervention in children with trisomy 13 or trisomy 18 with congenital heart defect. Based on our analysis of recent data, we recommend that decisions should not be based solely on the presence of trisomy but, instead, should be made on a case-by-case basis, considering both the severity of the baby's heart disease as well as the presence of other anomalies. These recommendations offer a framework to assist parents and clinicians in surgical decision making for children who have trisomy 13 or trisomy 18 with congenital heart defect.
Cardiac surgery in children with trisomy 13 or trisomy 18: How safe is it?
2022, JTCVS Open
Citation Excerpt :
Because of the poor prognosis without intervention, the advisability of offering cardiac surgery to these patients has been controversial.1,7-12 However, an early article by Graham and colleagues13 representing the Pediatric Cardiac Care Consortium reported a 91% hospital survival in 35 infants and children with trisomy 13 or trisomy 18 who received cardiac surgery. Since that report, several individual institution articles describe survival of 71% to 100%.15-18
Surgery for heart defects in children with trisomy 13 or 18 is controversial. We analyzed our 20-year experience.
Since 2002, we performed 21 operations in 19 children with trisomy 13 (n = 8) or trisomy 18 (n = 11). Age at operation was 4 days to 12 years (median, 154 days). Principal diagnosis was ventricular septal defect in 10 patients, tetralogy of Fallot in 7 patients, arch hypoplasia in 1 patient, and patent ductus arteriosus in 1 patient.
The initial operation was ventricular septal defect closure in 9 patients, tetralogy of Fallot repair in 7 patients, pulmonary artery banding in 1 patient, patent ductus arteriosus ligation in 1 patient, and aortic arch/coarctation repair in 1 patient. There were no operative or hospital deaths. Median postoperative intensive care and hospital stays were 189 hours (interquartile range, 70-548) and 14 days (interquartile range, 8.0-37.0), respectively, compared with median hospital stays in our center for ventricular septal defect repair of 4.0 days and tetralogy of Fallot repair of 5.0 days. On median follow-up of 17.4 months (interquartile range, 6.0-68), 1 patient was lost to follow-up after 5 months. Two patients had reoperation without mortality. There have been 5 late deaths (4 with trisomy 18, 1 with trisomy 13) predominately due to respiratory failure from 4 months to 9.4 years postoperatively. Five-year survival was 66.6% compared with 24% in a group of unoperated patients with trisomy 13 or 18.
Cardiac operation with an emphasis on complete repair can be performed safely in carefully selected children with trisomy 13 or trisomy 18. Hospital resource use measured by postoperative intensive care and hospital stays is considerably greater compared with nontrisomy 13 and 18.
Trisomy 18 Trends over the Last 20 Years
2021, Journal of Pediatrics
Citation Excerpt :
Patients with trisomy 18 often present with respiratory insufficiency, with a large proportion requiring early intubation and mechanical ventilation support. Several reports have shown that mechanical ventilation needs preoperatively may portend poor post-operative outcomes following congenital heart surgery.6,26 It is unclear from most of the large database studies whether this mechanical ventilatory need is due to the intrinsic respiratory complications for trisomy 18, such as central apnea, or if unrepaired congenital heart disease may lead to worsened respiratory status.
To evaluate the trends in hospitalizations for children with trisomy 18 over time and to determine the rate of invasive procedures on these children, using a large inpatient database.
A retrospective analysis using the Kids’ Inpatient Database from 1997 to 2016 was performed for trisomy 18. We evaluated survival to discharge as well as the presence of pulmonary, skeletal, neurologic, gastrointestinal, renal, and hematologic/bleeding problems. We also searched for the following interventions, if performed: gastrostomy tube placement, tracheostomy, or cardiac procedure.
Over this period 10 151 admissions occurred in children with a diagnosis of trisomy 18. Between 1997 and 2016, the number of children admitted annually with trisomy 18 increased 74% from 1036 to 1798. The proportion of patients born prematurely remained stable at 14%-16% throughout the study. Gastrostomy tube placement increased 12-fold during the study period, tracheostomy increased 11-fold, and cardiac intervention increased 5-fold. The overall mortality rate decreased in those with trisomy 18 from 32% in 1997 to 21% in 2016.
We highlight a decreased inpatient mortality rate during the study period. The number of children undergoing interventions such as gastrostomy tube and tracheostomy increased, as did the number of children undergoing cardiac intervention. Although the number of procedures has increased with the mortality rate decreasing, it is unclear at present whether the 2 are related.
Hirschsprung disease with Edward syndrome: A rare association: A case report
2021, International Journal of Surgery Case Reports
Citation Excerpt :
Of all the infants diagnosed with Edward syndrome, only a 5 to 10% survival rate is reported beyond the first year of life, the major cause of death being cardiorespiratory failure which makes the role of proper counseling more crucial [16]. Depending upon the choice of parents, intensive management of Edward syndrome includes supportive treatment of cardiovascular, respiratory systems as well as nutritional support along with the prevention of infection for a better life [16,17]. Our patient was managed for HD and proper counseling was done to the parents about the course of the ES.
Edward's syndrome (ES) occurs as a result of trisomy of chromosome 18 and is associated with multisystem congenital anomalies. The association of ES with various gastrointestinal malformations but Hirschsprung disease (HD) is well documented.
A female infant on her 5th day of life presented with episodes of bilious vomiting along with abdominal distension and no passage of stool. The child had a small head and prominent occiput, low set abnormal ears, small jaw, upturned nose, widely spaced eyes, small neck with widely spaced nipples, clenched hands with overlapping fingers, flexed big toe, and prominent heels.
Edward syndrome is associated with multisystem congenital abnormalities of which gastrointestinal abnormalities make up the most part. The condition can be identified by fetal ultrasound screening. Surgical correction of associated congenital anomalies at different times along with lifelong supportive management is important.
Edward syndrome can present as Hirschsprung disease as a part of associated gastrointestinal Malformation. Often, early identification and termination of the pregnancy in antenatal life can reduce the suffering. Surgical correction of associated anomalies along with supportive care forms the cornerstone of management. However, the prognosis remains poor.
Commentary: Cardiac surgery in children with trisomy 13 and trisomy 18: “Is it the quality of life or the quantity?”
2021, Journal of Thoracic and Cardiovascular Surgery
Impact of trisomy 13 and 18 on airway anomalies and pulmonary complications after cardiac surgery
2021, Journal of Thoracic and Cardiovascular Surgery
To determine the prevalence and influence of clinically significant airway and/or respiratory abnormalities in patients with trisomy 13 and 18 undergoing cardiac surgery.
We performed a retrospective, case-control cohort study of all patients with known trisomy 13 or 18 who underwent cardiac operations at our institution from 1994 to 2014. Cases were matched 3:1 by age, surgical date, and cardiac lesion with nontrisomy 13/18 patients. Baseline clinical characteristics and patient outcomes, including postoperative course and management were compared. Descriptive statistics and Wilcoxon rank-sum test or Fisher exact test as appropriate were used to determine significant differences.
In the 14 trisomy 13/18 patients who underwent cardiac surgery, there was an increased incidence of postoperative complications. Specifically, 93% had airway or pulmonary complications, including prolonged mechanical ventilation (n = 8), prolonged noninvasive positive pressure ventilation (n = 6), re-intubation (n = 7), tracheitis/pneumonia (n = 6), and tracheostomy (n = 2). The duration of intubation was longer (7.5 vs 2 days; P < .0001) as was the duration of noninvasive positive pressure ventilation (8 vs 2 days; P < .04) with longer hospital length of stay in the trisomy 13/18 cohort. There was 1 in-hospital mortality, with none in the control group.
Although most trisomy 13/18 patients survive cardiac surgery, these patients have an increased incidence of airway complications, requiring longer intensive respiratory support postoperatively that contributes to longer length of stay. Parental guidance before cardiac surgery should include a discussion about postoperative airway management.

View all citing articles on Scopus

View full text

Brief reportEffectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium)

Abstract

J Am Coll Cardiol

J Am Coll Cardiol

Natural history of trisomy 18 and trisomy 13I. Growth, physical assessment, medical histories, survival, and recurrence risk

Am J Med Genet

Natural history of trisomy 18

Arch Dis Child

Anaesthesia in a child with Patau's syndrome

Anaesthesia

Brief report
Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium)