Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.

Background: Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present within the first year of life with profound hypotonia and hypertrophic cardiomyopathy. Treatment with enzyme replacement therapy (ERT) has significantly improved survival for this otherwise lethal disorder.

Pregnancy and pulmonary arterial hypertension-improving surveillance and outcomes with multidisciplinary care and N terminal pro-brain natriuretic peptide trends.

Objective: To describe maternal and fetal outcomes and N Terminal pro-brain natriuretic peptide (NT-proBNP) trends in pregnancy with pulmonary arterial hypertension (PAH).

Methods: The medical records of all pregnant women with PAH referred to Pulmonary Hypertension Clinic were retrospectively reviewed and analyzed.

Results: We identified 35 pregnancies in 22 women (mean age 27.