Trisomy 18 cardiac papers
This is not an area, we looked into in detail, as Rumer did not present with acute cardiac problems. We'd recommend looking at the International Trisomy Alliance website for a number of papers on cardiac sugery in T18 and T13. These are some of the papers we have.
An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18 (Bruns D, Martinez A) 2015
Discusses cardiac management of children with trisomy 18, data obtained from the TRIS project . Again supports the value of cardiac surgery for this population. High survival figures are affected by selection bias which is acknowledged in the paper. Abstract only. Full article available for purchase. Healthcare professionals may access via Open Athens
Cardiac surgeries for children with trisomies 13 and 18: where are we now? (Janvier A et al) 2015
Another article from Annie Janvier, Barb Farlow and Keith Barrington exploring the concept of cardiac surgery for children with trisomies, discusses the limitations of the current research base including as to whether failure to repair cardiac defects leads to death. Discusses 2 cases and give guidelines for practitioners on discussing surgical and palliative options with parents. Abstract only. Full article available for purchase.
Cardiac surgery outcomes in patients with trisomy 13 and 18: an analysis of the STS congenital heart surgery database (Cooper D et al) 2015
Abstract of a paper (unable to locate full paper, may not yet be published) looking at cardiac surgery outcomes in children with trisomies in the US. Both palliative and corrective surgeries were included. Concluded cardiac surgery is associated with high mortality and morbidity in this group but nevertheless 80% survived until discharge.
A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients (Costello J et al) 2015
An article looking at a cohort of children with T18 and 13 with cardiac issues in a single hospital, some of whom had complete cardiac repair. Discusses the relatively high operative mortality but compares it to the extremely high mortality when expectant management is used. Strongly supportive of complete cardiac repair rather than palliative surgeries or expectant management. Abstract available to all. Full article available for purchase. Healthcare professionals may access via Open Athens.
Medial defects of the small pulmonary arteries in fatal pulmonary hypertension in infants with trisomy 13 and trisomy 18 (Tahara M et al) 2014
Children with T18 seem to have higher rate of pulmonary hypertension and an earlier onset of this which may contribute to their high mortality rates. This article discusses two cases where patients had medial defects of their small pulmonary arteries which contributed to their deaths and suggests that more infants with T18 and 13 may have similar defects and that this needs to be further explored. Abstract available to all. Full article available for purchase. Healthcare professionals may access via Open Athens.
Management of cardiac problems in trisomy 18- a major ethical dilemma; a case series review (Gali Vet al) 2011
This is a relatively negative abstract from the UK. It states that court would not approve invasive heart surgery and that they consider this thoroughly unethical. This has never been tested in court and there is no reasons given for this approach in the abstract. There is no full article available that I can find, it seems to be an abstract from a presentation rather than an article. It is notable that even in this negative case series that where full treatment was wanted by the parents, the child survived to 2 years.
An infant with trisomy 18 and a ventricular septal defect (Janvier A et al) 2011
Discussion of an individual case of an infant with T18 and a VSD with parents requesting question from the perspective of two neonatologists and a parent and they do not agree about the approach that should be taken. The case develops throughout the article.
The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan (Maeda J et al) 2011
An article looking at surgeries performed on patients with T18 and 13 in Japan. Reports high mortality rates for surgeries (56% survived postoperative period in T18 patients) and acknowledges high rate of pulmonary hypertension in the children with trisomies (52%) however patients who had surgery survived longer than those who didn't and article concludes that surgery improves survival in selected patients with T18.
Outcomes of cardiac surgery in trisomy 18 patients (Muneuchi J et al) 2011
Examines the cases of children with T18, some of whom had cardiac surgery and some of whom did not. Noted that cardiac surgery did not improve survival until discharge but did improve longer term survival. Survival at 12 and 24 months are significantly higher in the surgery group. Small study as all of these are. The high proportion of male children (over 60%) in this study is notable considering the lower number of males among T18 survivors and it is unclear whether this contributed to the relatively high post operative mortality. This is one of the studies to primarily look at surgery at low weights and young age which may also lead to higher mortality. Concludes surgical intervention should be considered carefully for children with T18, that it may improve long term survival in some children but that the high post operative mortality should be taken into account. Abstract only. Full article available for purchase
Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18 (Yates et al) 2011
Authors approached various hospitals and professionals to ascertain if cardiac surgeries were being offered to infants and children with T18 and T13 and to assess their responses to hypothetical scenarios. Noted that cardiologists were most likely to consider intervention appropriate while neonatologists were the least likely. They noted the difference of opinions between sub specialists on whether intevention should be offered. All professionals were more likely to offer intervention if parents indicated they wanted 'everything done'. No professionals would agree to intervention for single ventricle heart defects. Abstract available to all. Full article available for purchase. Healthcare professionals may access via Open Athens.
Radical surgery for a ventricular septal defect associated with trisomy 18 (Kobayashi J et al) 2010
Examines five complete VSD repair surgeries in children with T18. All survived surgery. One died prior to discharge from an intercranial haemmorhage. Four were discharged, one subsequently died from pneumonia and another from cardiac arrest. Two were still alive. Average survival for patients was 815 days although this may be skewed by the two long term survivors. Concludes surgery may improve survival in T18 Abstract available to all. Full article available for purchase. Healthcare professionals may access via Open Athens.
Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18 (Musewe N et al) 1990
Early paper looking at presenting cardiac anomalies in infants with T18 or 13. Most common anomalies were ASD, VSD and PDA. Suggests a higher prevalence of pulmonary hypertension may be seen and suggests that might be due to maldevelopment of the pulmonary vasculature in infants with trisomies.
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