Anaesthetic management of infants with glycogen storage disease type II: a physiological approach

Abstract

Pompe or Glycogen Storage Disease type II (GSD-II) is a genetic disorder affecting both cardiac and skeletal muscle. Historically, patients with the infantile form usually die within the first year of life due to cardiac and respiratory failure. Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes and a resurgence of elective anaesthesia for these patients. Understanding the unique cardiac physiology in patients with GSD-II is essential to providing safe general anaesthesia.

Pompe disease diagnosis and management guideline

“…In late-onset Pompe disease, the site of muscle biopsy can impact results due to the variability of glycogen accumulation both between different muscles and between the muscle fiber type within a muscle. Furthermore, there is anesthesia risk (see section below) in infantile Pompe disease if an open biopsy is done 26. This risk should be carefully considered, particularly if the patient is already shown to have severe cardiomyopathy and skeletal myopathy.…”

“…True Wolf-Parkinson-White syndrome has been reported to occur in Pompe disease43 as well, though a coincidental occurrence can not be ruled out. These conduction abnormalities, in conjunction with the hypertrophic cardiomyopathy, place these patients at high risk of tachyarrhythmia and sudden death, especially in situations of stress such as infection, fever, dehydration and anesthesia 26,40. Twenty-four hour ambulatory ECG (Holter monitoring) is thus useful in the management of Pompe disease patients 44…”

“…Furthermore, in any case of cardiac hypertrophy there is potential for arrhythmia which may be due to underlying subendocardial ischemia from inadequate coronary perfusion of a massively hypertrophied ventricle. Therefore, special care must be taken in Pompe disease patients to avoid hypotension in diagnostic procedures requiring anesthesia (see below) or when there is volume depletion 26. Reduction in cardiac mass is observed during ERT and reverse remodeling does occur to varying degrees leading to changes in cardiac function as measured by EF.…”

“…The thickened ventricular wall results in a higher left ventricular end-diastolic pressure (LVEDP) at lower ventricular volumes and an increased potential for suben-docardial ischemia. Maintaining a normal coronary perfusion pressure is thus of paramount importance 26. Intraoperative cardiac arrest during halothane anesthesia and sevoflurane inhalation induction followed by a maintenance infusion of propofol in infantile Pompe has previously been reported 91,92.…”

Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome

“…13 A number of considerations that should be taken into account when administering anesthesia to this patient population have been reviewed. 22 On follow-up, a diagnosis of infantile Pompe disease can usually be made following an echocardiograph, chest x-ray, and subsequent electrocardiogram (EKG), though milder Pompe disease usually does not cause cardiac enlargement. A chest x-ray is often the easiest screening test to obtain in a pediatric office.…”