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19.07.2017 | Review | Ausgabe 5/2017

Journal of Inherited Metabolic Disease 5/2017

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

Zeitschrift:
Journal of Inherited Metabolic Disease > Ausgabe 5/2017
Autoren:
D. Marques-da-Silva, R. Francisco, D. Webster, V. dos Reis Ferreira, J. Jaeken, T. Pulinilkunnil
Wichtige Hinweise
Communicated by: Eva Morava

Electronic supplementary material

The online version of this article (doi:10.​1007/​s10545-017-0066-y) contains supplementary material, which is available to authorized users.
D. Marques-da-Silva, R. Francisco equally contributed to this work and should be considered first authors.

Note

This study is a result of a collaborative study between patient advocacy groups, families, and professionals (CDG Professionals and Patient Associations International Network; CDG & Allies—PPAIN).

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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