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Hypercapnic respiratory failure in pregnancy: A rare presentation of a congenital myopathy

Year: 2025
Type: article
Study design: Case Report
Abstract: Here we present an unusual case of what was initially asymptomatic hypercapnic respiratory failure presenting in pregnancy and the complex investigative journey, culminating in a diagnosis of ryanodine receptor-1-related congenital myopathy. Late pregnancy was complicated by pre-eclampsia and peripartum cardiomyopathy, resulting in an acute decompensation in respiratory function which has resulted in long-term post-partum non-invasive ventilation.
Authors: Naomi Earl, Guy Chivers, Philip Davidson
Language: English
Open Access status: green
OpenAlex ID: W4416582576
FWCI:
Cites: 11
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