AI Article Synopsis
- Congenital disorders of glycosylation (CDG) are genetic metabolic issues caused by improper protein and lipid glycosylation, encompassing 103 types with varied severity.
- About 20% of CDG patients experience cardiac issues, categorized by glycosylation types like N-glycosylation and O-glycosylation.
- The review aims to clarify the types of heart disorders seen in CDG, such as cardiomyopathies and arrhythmias, potentially aiding in better management of these cardiac complications.
Article Abstract
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways. The aim of this review was to document and interpret the incidence of heart disease in CDG patients. Heart disorders were grouped into cardiomyopathies, structural defects, and arrhythmogenic disorders. This work may contribute to improved early management of cardiac complications in CDG.
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| http://dx.doi.org/10.1007/s10545-017-0066-y | DOI Listing |
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