Background:

Growth retardation, malnutrition, and failure to thrive are some of the consequences associated with congenital heart diseases. Several metabolic factors such as hypoxia, anoxia, and several genetic factors are believed to alter the energetics of the heart. Timely diagnosis and patient management is one of the major challenges faced by the clinicians in understanding the disease and provide better treatment options. Metabolic profiling has shown to be potential diagnostic tool to understand the disease.

Objective:

The present experiment was designed as a single center observational pilot study to classify and create diagnostic metabolic signatures associated with the energetics of congenital heart disease in cyanotic and acyanotic groups.

Methods:

Metabolic sera profiles were obtained from 35 patients with cyanotic congenital heart disease (TOF) and 23 patients with acyanotic congenital heart disease (ASD and VSD) using high resolution 1D ¹H NMR spectra. Univariate and multivariate statistical analysis were performed to classify particular metabolic disorders associated with cyanotic and acyanotic heart disease.

Results:

The results show dysregulations in several metabolites in cyanotic CHD patients versus acyanotic CHD patients. The discriminatory metabolites were further analyzed with area under receiver operating characteristic (AUROC) curve and identified four metabolic entities (i.e. mannose, hydroxyacetone, myoinositol, and creatinine) which could differentiate cyanotic CHDs from acyanotic CHDs with higher specificity.

Conclusion:

An untargeted metabolic approach proved to be helpful for the detection and distinction of disease-causing metabolites in cyanotic patients from acyanotic ones and can be useful for designing better and personalized treatment protocol.

中文翻译：

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血清代谢特征的差异，以确定紫绀型心脏病和非紫绀型心脏病的潜在生物标志物

背景：

生长迟缓、营养不良和发育迟缓是与先天性心脏病相关的一些后果。一些代谢因素如缺氧、缺氧和一些遗传因素被认为会改变心脏的能量。及时诊断和患者管理是临床医生在了解疾病和提供更好的治疗方案方面面临的主要挑战之一。代谢谱分析已被证明是了解该疾病的潜在诊断工具。

客观的：

本实验被设计为单中心观察性试点研究，用于分类和创建与紫绀和无紫绀组先天性心脏病能量学相关的诊断代谢特征。

方法：

^{使用高分辨率 1D 1} H NMR 光谱从 35 名紫绀型先天性心脏病 (TOF) 患者和 23 名紫绀型先天性心脏病（ASD 和 VSD）患者获得代谢血清图谱。进行单变量和多变量统计分析以对与紫绀型和无紫绀型心脏病相关的特定代谢紊乱进行分类。

结果：

结果显示紫绀型冠心病患者与非紫绀型冠心病患者的几种代谢物失调。使用受试者工作特征 (AUROC) 曲线下的面积进一步分析鉴别代谢物，并确定了四种代谢实体（即甘露糖、羟基丙酮、肌醇和肌酐），它们可以以更高的特异性区分紫绀型先心病和非紫绀型先心病。

结论：

非靶向代谢方法被证明有助于检测和区分紫绀患者和无紫绀患者的致病代谢物，并可用于设计更好和个性化的治疗方案。