Abstract
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.
Original language | English |
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Pages (from-to) | 79-90 |
Number of pages | 12 |
Journal | Neuromuscular Disorders |
Volume | 31 |
Issue number | 2 |
DOIs | |
Publication status | Published - 1 Feb 2021 |
Bibliographical note
Funding Information:We would like to acknowledge G.B. de Jonge, S. Gunput and M.F.M. Engel of the Medical Library of Erasmus MC for assisting with the literature search.
Publisher Copyright:
© 2020 The Authors
Research programs
- EMC MM-01-54-01