PDF(Pubmed)
Abstract：
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disorders linked to development of cardiac defects is constantly growing and includes inherited metabolic disorders (IMDs). Several IMDs affecting various metabolic pathways have been reported presenting cardiomyopathies and cardiac defects. Considering the pivotal role of sugar metabolism in cardiac tissue, including energy production, nucleic acid synthesis and glycosylation, it is not surprising that an increasing number of IMDs linked to carbohydrate metabolism are described with cardiac manifestations. In this systematic review, we offer a comprehensive overview of IMDs linked to carbohydrate metabolism presenting that present with cardiomyopathies, arrhythmogenic disorders and/or structural cardiac defects. We identified 58 IMDs presenting with cardiac complications: 3 defects of sugar/sugar-linked transporters (GLUT3, GLUT10, THTR1); 2 disorders of the pentose phosphate pathway (G6PDH, TALDO); 9 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG2, G6PT1); 29 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2); 15 carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK). With this systematic review we aim to raise awareness about the cardiac presentations in carbohydrate-linked IMDs and draw attention to carbohydrate-linked pathogenic mechanisms that may underlie cardiac complications.
摘要：
心力衰竭（HF）是一种进行性慢性疾病，仍然是全球死亡的主要原因。影响超过6400万患者。HF可由心肌病和具有单基因病因的先天性心脏缺陷引起。与心脏缺陷发展有关的基因和单基因疾病的数量不断增加，包括遗传代谢疾病（IMD）。已经报道了几种影响各种代谢途径的IMD表现为心肌病和心脏缺陷。考虑到糖代谢在心脏组织中的关键作用，包括能源生产，核酸合成和糖基化，越来越多的与碳水化合物代谢相关的IMD被描述为心脏表现并不奇怪.在这次系统审查中，我们提供了与呈现心肌病的碳水化合物代谢相关的IMD的全面概述，心律失常性疾病和/或结构性心脏缺陷。我们确定了58个表现为心脏并发症的IMD：糖/糖连接转运蛋白（GLUT3，GLUT10，THTR1）的3个缺陷；戊糖磷酸途径的2个障碍（G6PDH，TALDO）；9种糖原代谢疾病（GAA，GBE1,GDE,GYG1，GYS1，LAMP2，RBCK1，PRKAG2，G6PT1）;29先天性糖基化疾病（ALG3，ALG6，ALG9，ALG12，ATP6V1A，ATP6V1E1,B3GALTL,B3GAT3,COG1,COG7,DOLK,DPM3,FKRP,FKTN,GMPPB,MPDU1、NPL、PGM1,PIGA,PIGL,PIGN,PIGO,PIGT,PIGV,PMM2，POMT1，POMT2，SRD5A3，XYLT2）；15种碳水化合物相关的溶酶体贮积病（CTSA，GBA1,GLA,GLB1,HEXB,IDUA,IDS,SGSH,NAGLU,HGSNAT,GNS,GALNS,ARSB,GUSB,ARSK).通过这项系统评价，我们旨在提高人们对碳水化合物相关IMD的心脏表现的认识，并提请人们注意可能导致心脏并发症的碳水化合物相关致病机制。
