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Interstage Single Ventricle Heart Disease Infants Show Dysregulation in Multiple Metabolic Pathways: Targeted
Benjamin S Frank1, Ludmila Khailova1, Jonathan Dekermanjian2
1Section of Cardiology, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
Insights
Infants with single ventricle heart disease (SVHD) show altered metabolomes, differing from healthy infants and changing after Stage 2 palliation. Some metabolites may indicate adverse outcomes in SVHD patients.
Area of Science:
- Biochemistry
- Pediatric Cardiology
- Systems Biology
Background:
- Infants with single ventricle heart disease (SVHD) face morbidity due to inadequate pulmonary vasculature.
- Metabolomic analysis offers a systems biology approach to identify biomarkers in complex diseases.
- The metabolome in infants with SVHD is not well understood, especially its relation to pulmonary vascular readiness.
Purpose of the Study:
- To evaluate the circulating metabolome in interstage infants with SVHD.
- To determine if metabolite levels correlate with pulmonary vascular inadequacy.
Main Methods:
- Prospective cohort study of 52 infants with SVHD and 48 healthy controls.
- Targeted metabolomic phenotyping of 175 metabolites using tandem mass spectrometry on serum samples.
- Clinical variables were extracted from medical records.
Main Results:
- Metabolomic analysis distinguished SVHD infants from controls and showed differences between pre- and post-Stage 2 samples.
- 74 metabolites and 27 metabolic pathways (e.g., pentose phosphate, arginine) differed between SVHD infants and controls.
- Postoperatively, 71 metabolites and 33 pathways (e.g., arginine, tryptophan) were altered; trends linked methionine to pulmonary vascular resistance and tryptophan to hypoxemia.
Conclusions:
- The metabolome of interstage SVHD infants is significantly different from controls and is further altered after Stage 2 palliation.
- Certain metabolites showed potential associations with adverse clinical outcomes.
- Metabolic dysregulation may play a crucial role in the early pathobiology of SVHD.
Background:
Infants with SVHD experience morbidity related to pulmonary vascular inadequacy. Metabolomic analysis involves a systems biology approach to identifying novel biomarkers and pathways in complex diseases. The metabolome of infants with SVHD is not well understood and no prior study has evaluated the relationship between serum metabolite patterns and pulmonary vascular readiness for staged SVHD palliation.
Objectives:
The purpose of this study was to evaluate the circulating metabolome of interstage infants with single ventricle heart disease (SVHD) and determine whether metabolite levels were associated with pulmonary vascular inadequacy.
Methods:
This was a prospective cohort study of 52 infants with SVHD undergoing Stage 2 palliation and 48 healthy infants. Targeted metabolomic phenotyping (175 metabolites) was performed by tandem mass spectrometry on SVHD pre-Stage 2, post-Stage 2, and control serum samples. Clinical variables were extracted from the medical record.
Results:
Random forest analysis readily distinguished between cases and controls and preoperative and postoperative samples. Seventy-four of 175 metabolites differed between SVHD and controls. Twenty-seven of 39 metabolic pathways were altered including pentose phosphate and arginine metabolism. Seventy-one metabolites differed in SVHD patients between timepoints. Thirty-three of 39 pathways were altered postoperatively including arginine and tryptophan metabolism. We found trends toward increased preoperative methionine metabolites in patients with higher pulmonary vascular resistance and higher postoperative tryptophan metabolites in patients with greater postoperative hypoxemia.
Conclusions:
The circulating metabolome of interstage SVHD infants differs significantly from controls and is further disrupted after Stage 2. Several metabolites showed trends toward association with adverse outcomes. Metabolic dysregulation may be an important factor in early SVHD pathobiology.
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