Forum proposes a model for cardiac malformations due to chromosome 21 gene disruptions in children with Down syndrome, suggesting significant physiological impact.
Why do half of all children with Down syndrome have heart defects? Recent studies show that multiple chromosome 21 genes-most notably the chromatin regulator high-mobility group nucleosome-binding domain 1-collectively disrupt bone morphogenetic protein, Wingless/Integrated, Neurogenic locus notch homolog, and calcineurin-nuclear factor of activated T cells signalling. In this forum, we propose a convergent threshold model for these cardiac malformations.
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Schwietzer et al. (2026) studied this question.
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