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

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.