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

Mrudu Herbert; Heidi Cope; Jennifer S Li; Priya S Kishnani

doi:10.1016/j.jpeds.2018.02.007

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

J Pediatr. 2018 Jul:198:308-312. doi: 10.1016/j.jpeds.2018.02.007. Epub 2018 Apr 4.

Authors

Mrudu Herbert¹, Heidi Cope¹, Jennifer S Li², Priya S Kishnani³

Affiliations

¹ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
² Division of Pediatric Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
³ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address: priya.kishnani@duke.edu.

PMID: 29627187
DOI: 10.1016/j.jpeds.2018.02.007

Abstract

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.

Keywords: acid-α-glucosidase; arrhythmia; glycogen storage disease type II; hypertrophic cardiomyopathy.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Age of Onset
Aged
Child
Child, Preschool
Cohort Studies
Female
Glucan 1,4-alpha-Glucosidase / genetics*
Glycogen Storage Disease Type II / complications*
Glycogen Storage Disease Type II / genetics*
Heart Diseases / diagnosis*
Heart Diseases / etiology*
Humans
Infant
Infant, Newborn
Male
Middle Aged
Mutation / genetics
Neonatal Screening
Young Adult

Substances

Glucan 1,4-alpha-Glucosidase