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

D. Marques-da-Silva; R. Francisco; D. Webster; V. dos Reis Ferreira; J. Jaeken; T. Pulinilkunnil

doi:10.1007/s10545-017-0066-y

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

D. Marques-da-Silva, R. Francisco, D. Webster, V. dos Reis Ferreira, J. Jaeken, T. Pulinilkunnil

Medicine

Producción científica: Contribución a una revista › Artículo de revisión › revisión exhaustiva

53 Citas (Scopus)

Resumen

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.

Idioma original	English
Páginas (desde-hasta)	657-672
Número de páginas	16
Publicación	Journal of Inherited Metabolic Disease
Volumen	40
N.º	5
DOI	https://doi.org/10.1007/s10545-017-0066-y
Estado	Published - sep. 1 2017

Nota bibliográfica

Funding Information:
Dorinda Marques da Silva and Rita Francisco acknowledge support from the Liliana Scientific Scholarship 2016. We also thank the CDG & Allies—Professionals and Patient Associations International Network (CDG & Allies PPAIN), whose network expertise greatly helped with this manuscript. We are grateful to Diogo Sampaio (http://www.diogosampaio.pt/), who helped to design Fig. 1 of this publication. 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). This work was supported by the CDG Professionals and Patient Associations International Network (CDG & Allies—PPAIN) and Liliana Fellowships from APCDG attributed to Marques-da-Silva D. and Francisco R. Figure 1 was supported by Foundation Glycosylation. The authors confirmed independence from sponsors, the content of the article has not been influenced by sponsors. This work was supported by the Natural Sciences and Engineering Research Council of Canada (RGPIN-2014-03687) grant to TP.

Publisher Copyright:
© 2017, SSIEM.

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

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

Resumen

Nota bibliográfica

ASJC Scopus Subject Areas

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