Should we mend their broken hearts? The history of cardiac repairs in children with Down syndrome.

In May 2014, Evans et al1 reported that children with Down syndrome had lower rates of in-hospital death after cardiac surgery, compared with children without Down syndrome. Forty years ago, these results would have been unthinkable, as heart defects were not repaired in the majority of children with Down syndrome. However, as the field of cardiac surgery evolved, equal postoperative outcomes were reported between children with Down syndrome and those without. The historical question of whether we ought to offer cardiac repairs to infants with Down syndrome was influenced by a complex web of ethical, social, and legal considerations that changed over time, resulting in the current standard of care in which children with and without Down syndrome have the same opportunity for cardiac repair. Complex intracardiac surgery in infants was not routinely performed until the early 1970s, and Pediatrics published the first report on cardiac repairs in infants with Down syndrome in 1976.2 The authors concluded that overall surgical mortality in Down syndrome was high, especially in atrioventricular septal defects (AVSD), the most common heart defect associated with Down syndrome. Critical appraisal reveals only a minority of the children in the cohort received cardiac repairs, and of those, many were not suitable for full repairs because they had developed pulmonary hypertension by the time of surgery. In a 1978 Letter to the Editor,3 Feingold suggested that children with Down syndrome did poorly because they did not receive prompt surgical repairs, and not because of their Down syndrome. Over the following years, cardiac surgical techniques in infants developed rapidly, with improved outcomes in all children. The advent of echocardiography in the late 1980s allowed for screening and early diagnosis of cardiac defects in community settings, leading to earlier diagnoses and repairs.4 Frid et al5 traced rates of isolated AVSD repairs in children in Sweden with Down syndrome, finding increasing rates of repairs from 1973 to 1997, as well as improving short and long-term mortalities (Table 1). The age of cardiac defect diagnosis in infants with Down syndrome also dramatically decreased, from 861 days of age in 1970 to 4 days in 1996. Although the medical literature showed no increase in postoperative mortality in children with Down syndrome versus those without,6,7 some of these children were denied surgical repairs into the 1990s. In 1985, Bull et al8 argued that withholding cardiac surgery in a child with Down syndrome was a valid clinical decision. Given operative mortalities of ∼20% at that time, the authors suggested that the early risk was justified in a chromosomally normal child but not in a child with Down syndrome, whose life expectancy and mental capacity were already limited. At that time, the majority of persons with Down syndrome could be expected to live into their 40s and 50s, whereas those with an unrepaired heart defect had survival rates of only 2% by 20 years of age.9 The same year, Sondheimer et al10 published a case series demonstrating that children with