Key result
Menkes disease and occipital horn syndrome are linked to ~4-fold more major congenital heart defects.
Why the study?
Is there an increased frequency of congenital heart defects in patients with Menkes disease compared to the general population?
Population
n=95 patients with Menkes disease or occipital horn syndrome (OHS) from a patient registry.
Design
Cohort
Authors
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May support cardiac evaluation in Menkes disease; hypothesis-generating from Level 3 data and needs prospective validation.
Observational (n=95)
Is there an increased frequency of congenital heart defects in patients with Menkes disease compared to the general population?
Absolute Event Rate: 4.2% vs 1%
Congenital heart defects occur at a higher frequency (4.2%) in patients with Menkes disease compared to the general population, suggesting a need for routine cardiac evaluation in these infants.
Hicks et al. (2011) conducted an observational in Menkes disease and occipital horn syndrome (OHS) (n=95). Menkes disease and occipital horn syndrome vs. General population was evaluated on Major congenital heart defects. Patients with Menkes disease and occipital horn syndrome had a 4.2% prevalence of major congenital heart defects, exceeding the general population prevalence of approximately 1%.
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