Cardiovascular disease in non-classic Pompe disease: A systematic review

Neuromuscul Disord. 2021 Feb;31(2):79-90. doi: 10.1016/j.nmd.2020.10.009. Epub 2020 Nov 9.


Pompe disease is a rare inherited metabolic and neuromuscular disorder, presenting as a spectrum, with the classic infantile form on one end and the more slowly progressive non-classic form on the other end. While being a hallmark in classic infantile Pompe disease, cardiac involvement in non-classic Pompe disease seems rare. Vascular abnormalities, such as aneurysms and arterial dolichoectasia, likely caused by glycogen accumulation in arterial walls, have been reported in non-classic Pompe patients. With this first systematic review on cardiovascular disease in non-classic Pompe disease, we aim to gain insight in the prevalence and etiology of cardiovascular disease in these patients. Forty-eight studies (eight case-control studies, 15 cohort studies and 25 case reports/series) were included. Fourteen studies reported cardiac findings, 25 studies described vascular findings, and nine studies reported both cardiac and vascular findings. Severe cardiac involvement in non-classic Pompe disease patients has rarely been reported, particularly in adult-onset patients carrying the common IVS1 mutation. There are indications that intracranial dolichoectasia and aneurysms are more prevalent in non-classic Pompe patients compared to the general population. To further investigate the prevalence of cardiovascular disease in non-classic Pompe patients, larger case-control studies that also study established cardiovascular risk factors should be conducted.

Keywords: Cardiac involvement; Cardiovascular risk factors; Pompe disease; Vascular abnormalities.

Publication types

  • Systematic Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Cardiovascular Diseases / complications*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Glycogen Storage Disease Type II / complications*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Young Adult