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Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals

N A M E van der Beek1, O I I Soliman, C I van Capelle

  • 1Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands. n.beek@erasmusmc.nl

Journal of the Neurological Sciences
|September 2, 2008
PubMed

Insights

Cardiac involvement is rare in Pompe disease patients with the c.-32-13T>G genotype. Electrocardiography is a suitable initial screening tool for these patients.

Area of Science:

  • Genetics
  • Cardiology
  • Metabolic Disorders

Background:

  • Pompe disease is an inherited metabolic disorder caused by acid alpha-glucosidase deficiency.
  • Neonatal Pompe disease often presents with severe hypertrophic cardiomyopathy, leading to early mortality.
  • This study focuses on patients with the common c.-32-13T>G genotype, who may exhibit milder phenotypes.

Purpose of the Study:

  • To investigate cardiac involvement in children and adults with Pompe disease and the c.-32-13T>G genotype.
  • To assess the utility of cardiac screening in patients with relatively milder Pompe disease phenotypes.
  • To determine appropriate screening strategies for cardiac complications in this patient population.

Main Methods:

  • Echocardiography, electrocardiography, and Holter monitoring were used to evaluate cardiac dimensions and function.
  • The study included 68 patients with Pompe disease, with 22 having disease onset before age 18.
  • Cardiac assessments were performed to identify abnormalities related to Pompe disease.

Main Results:

  • Only 3% of patients (2/68) exhibited cardiac abnormalities potentially linked to Pompe disease.
  • One patient showed a Wolff-Parkinson-White pattern, and another had mild hypertrophic cardiomyopathy unresponsive to treatment.
  • Other minor cardiac abnormalities in adults were attributed to unrelated factors like age or hypertension.

Conclusions:

  • Cardiac involvement is uncommon in Pompe disease patients with the c.-32-13T>G genotype.
  • Electrocardiography is recommended as an initial cardiac screening method.
  • Extensive cardiac screening is advised only for patients with abnormal ECG results or a history of cardiac disease.
Abstract

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