Heart Health

In infants, Pompe disease results in severely enlarged and weakened hearts which can pose a serious health risks, such as changes in the heart’s normal rhythm which can be life-threatening. Most infants suffer from heart failure before the age of 1 year.[1-2] Managing these symptoms requires close monitoring of the heart’s status and providing emergency care and resuscitation as needed.

Children and adults rarely have the heart symptoms seen in infants. However, they may have milder heart problems that still require monitoring or special care in certain circumstances.

Importance of Heart Monitoring

Doctors use a variety of tests, including x-rays, echocardiograms, and electrocardiograms, to check the health of the heart.

Drug Precautions[3]

People of any age with Pompe disease should be aware of potential risks to the heart from certain drugs, including those used for anesthesia during surgery and even some common over-the-counter cold and cough medicines. Patients who have not experienced any cardiac symptoms, should talk to their doctor before taking any new medications.


  1. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
  2. Van den Hout HMP. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatr 2003 Aug;112(2):332-340.
  3. Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.

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