TY - JOUR
T1 - Cardiac complications of congenital disorders of glycosylation (CDG)
T2 - a systematic review of the literature
AU - Marques-da-Silva, Dorinda
AU - Francisco, R.
AU - Webster, D.
AU - dos Reis Ferreira, V.
AU - Jaeken, J.
AU - Pulinilkunnil, T.
N1 - 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.
PY - 2017/9/1
Y1 - 2017/9/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85025111840&partnerID=8YFLogxK
U2 - 10.1007/s10545-017-0066-y
DO - 10.1007/s10545-017-0066-y
M3 - Review article
C2 - 28726068
AN - SCOPUS:85025111840
SN - 0141-8955
VL - 40
SP - 657
EP - 672
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 5
ER -