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J Inherit Metab Dis. 2017 Sep;40(5):657-672. doi: 10.1007/s10545-017-0066-y. Epub 2017 Jul 19.

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

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UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisbon, Portugal.
Portuguese Association for CDG, Lisbon, Portugal.
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal.
Division of Infectious Diseases, Department of Medicine, Saint John Regional Hospital, Dalhousie University, Saint John, NB, Canada.
Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium.
Department of Biochemistry and Molecular Biology, Faculty of Medicine, Dalhousie University, Dalhousie Medicine New Brunswick, 100 Tucker Park Road, Saint John, NB, E2L 4L5, Canada.


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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