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February 24, 2024European Heart Journal - Case ReportsOpen Access

Pulmonary hypertension in an adult patient with congenital central hypoventilation syndrome: a case report

Yosuke Terui Shoko Ohura Tetsuji Nozaki Takuya Yagi

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Abstract

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder of autonomic respiratory control. Mutations in the paired-like homeobox 2B (PHOX2B) gene impair respiratory drive, causing hypercarbia and hypoxaemia. Most patients with CCHS are diagnosed in the neonatal period; however, a few are diagnosed in adulthood.

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Terui et al. (2024) studied this question.

synapsesocial.com/papers/68e77c7cb6db6435876f05e0 https://doi.org/10.1093/ehjcr/ytae109

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Congenital central hypoventilation syndrome: Diagnostic and management challengesOriginal Research · 2016 · 37 citations
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