Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis

Genetic disease and intellectual disability as contraindications to transplant listing in the United States: A survey of heart, kidney, liver, and lung transplant programs

“…Among the chromosomal abnormalities were Down syndrome (n = 5) and DiGeorge syndrome (n = 12). Ultimately, this study found that there was no significant difference in all cause in hospital mortality rates, 1‐year survival and 5‐year survival 8 . A review of 29 muscular dystrophy patients who underwent heart transplantation found no significant difference in survival, infection, or rejection rates 15 .…”

“…A short report from the United Kingdom on heart and lung transplant found that only three patients with Down Syndrome had been referred for consideration of thoracic transplantation over a 14‐year period, ending in 2000 7 . Another study of US pediatric heart transplants from 2004 to 2016 found that only 2.1% were done on patients with chromosomal abnormalities 8 …”

“…7 Another study of US pediatric heart transplants from 2004 to 2016 found that only 2.1% were done on patients with chromosomal abnormalities. 8 Several surveys have been done to determine how transplant programs use genetic diagnoses and/or intellectual disability in listing decisions. A 1993 survey of heart, liver, and kidney transplant programs found that 25.6% of heart programs, 10.9% of liver programs, and 2.6% of kidney programs considered an IQ < 70 an absolute contraindication to listing and even more, 74.4% of heart programs, 45.7% of liver programs, and 24.0% of kidney programs, considered IQ < 50 an absolute contraindication to listing.…”

Heart transplantation in an infant with Williams‐Beuren syndrome and rapidly progressive ischemic cardiomyopathy

“…The limited data on post‐transplant outcomes in children with genetic syndrome suggest comparable 1‐year post‐transplant survival despite longer hospital stays and higher cost of hospitalizations . Our patient had a complex intra‐ and post‐operative course in part related to the preoperative clinical status and complex anatomic repair with long bypass time, but also related to inherent extracardiac comorbidities associated with the syndromic nature of WBS . While recognizing the concerns for the possible progression of systemic and pulmonary vasculopathy, the post‐transplant course to date has been comparable to many other complex and challenging children with syndromic anomalies …”

“…WBS has a highly variable phenotype with multiple features including growth deficiency, intellectual disability, endocrine, gastrointestinal, genitourinary, auditory, and ophthalmologic abnormalities. These features are common in other children who undergo transplantation, do not usually impact post‐transplant survival, and are therefore not absolute contraindications to heart transplantation . The variable long‐term outcome in WBS makes prognostication difficult but survival into adult life is well recorded .…”