Objective
Congenital heart disease is commonly a manifestation of Genetic Conditions (GC). Surgery and/or ECMO were withheld in the past from some patients with GC. We hypothesized that surgical care of children with GC has increased over the last decade but their cardiac ECMO use remains lower and mortality greater.
Design
Retrospective Cohort Study
Setting
Patients admitted to the Pediatric Health Information System database ≤18 years old with cardiac surgery during 2003–14. GC identified by ICD9 codes were grouped as: Trisomy 21 (T21), Trisomy 13 or 18 (T13/18), 22q11 deletion, and all “other” GC and compared to patients without GC
Patients
A total of 95,253 patients met study criteria, no GC (85%), T21 (10%), T13/18 (0.2%), 22q11 deletion (1%), and “others” (5%).
Interventions
None
Measurements and Main Results
Annual surgical cases did not vary over time. Compared to patients without GC, T21 patient ECMO use was just over half (OR 0.54), but mortality with and without ECMO were similar. In T13/18 patients, ECMO use was similar to those without GC, but all 5 treated with ECMO died. 22q11 patients compared to those without GC had similar ECMO use, but greater odds of ECMO mortality (OR 3.44). “Other” GC had significantly greater ECMO use (OR 1.22), mortality with ECMO (OR 1.42) and even greater mortality odds without (OR 2.62).
Conclusions
The proportion of children undergoing cardiac surgery who have GC did not increase during the study. Excluding T13/18, all groups of GCs received and benefited from ECMO, although ECMO mortality was greater for those with 22q11 deletion and “other” GC.
Scurvy is uncommon in the industrialized world and is rarely reported in the paediatric population. Children with developmental and neuropsychiatric disorders and poor oral intake are at increased risk. The classic appearance of scurvy on radiographs is well documented. However, in early disease, radiographs may be normal. Bone scintigraphy can detect early disease, but involves radiation and findings are usually non-specific. MRI can detect very early disease in patients with scurvy prior to radiological findings and does not involve radiation. We present a case of unsuspected scurvy in an autistic child who had abnormality confined to the metaphysis seen on both MRI and bone scintigraphy. Early diagnosis and treatment in our patient prevented more serious complications such as fractures and subperiosteal haemorrhages.
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