Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.

Published

Journal Article

Based on a review of a large patient cohort, published literature, and 3 newborn screening cohorts, we concluded that children diagnosed through newborn screening with late-onset Pompe disease and the common heterozygous c.-32-13T>G variant require frequent cardiac follow-up with electrocardiography for arrhythmias. However, there is limited evidence for performing repeated echocardiography for cardiomyopathy.

Full Text

Duke Authors

Cited Authors

  • Herbert, M; Cope, H; Li, JS; Kishnani, PS

Published Date

  • July 2018

Published In

Volume / Issue

  • 198 /

Start / End Page

  • 308 - 312

PubMed ID

  • 29627187

Pubmed Central ID

  • 29627187

Electronic International Standard Serial Number (EISSN)

  • 1097-6833

Digital Object Identifier (DOI)

  • 10.1016/j.jpeds.2018.02.007

Language

  • eng

Conference Location

  • United States