Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy

Sravani Avula, Thuylinh M. Nguyen, Michael Marble, Christian Lilje

Research output: Contribution to journalArticlepeer-review

Abstract

Classic infantile-onset Pompe disease (IOPD), characterized by predominantly cardiac involvement, used to be considered uniformly lethal within months. The availability of enzyme replacement therapy (ERT) has transformed the course of the disease. Decrease in ventricular hypertrophy and improvement in ventricular function have been suggested as proof for efficacy. We report the cardiac response to ERT of a child with IOPD and severe hypertrophic cardiomyopathy. The myocardial hypertrophy resolved. Change in ejection fraction, however, was slow. We discuss the potential benefit of other parameters beyond ejection to assess cardiac function in IOPD, including speckle tracking-based strain.

Original languageEnglish (US)
Pages (from-to)621-624
Number of pages4
JournalEchocardiography
Volume34
Issue number4
DOIs
StatePublished - Apr 1 2017
Externally publishedYes

Keywords

  • congenital heart disease
  • echocardiography
  • hypertrophic cardiomyopathy
  • myocardial strain

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine

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