Supplementary Materials

The PDF file includes:

  • Materials and Methods
  • Fig. S1. Schematic diagram of the study design.
  • Fig. S2. Alterations of metabolic substrate utilization–related enzymes and transporters in AC versus nondiseased donor human heart identified by proteomic profiling.
  • Fig. S3. Western blots of ketosis enzymes and CPT1β in human RV tissue from AC (n = 13) and nondiseased donor (n = 13) individuals.
  • Fig. S4. Cardiac cell type isolation and validation by immunofluorescence and qRT-PCR.
  • Fig. S5. Identification of β-OHB concentration in human myocardium by LC-MS/MS.
  • Fig. S6. Correlation between plasma β-OHB and NEFA concentrations among 13 patients with AC in the discovery cohort evaluated by Pearson correlation.
  • Fig. S7. Phenotypic examination of mice.
  • Fig. S8. Plasma β-OHB concentrations of AC patients with different genotypes.
  • Fig. S9. Graphical abstract showing ketone body metabolism and FAO remodeling in early and advanced stages of AC.
  • Table S1. Clinical diagnosis and characteristics of patients with AC in the discovery cohort and validation cohort.
  • Table S2. Baseline characteristics of individuals included in the comparison of plasma β-OHB concentrations in the discovery cohort.
  • Table S3. Baseline characteristics of individuals in the validation cohort.
  • Table S4. Baseline characteristics of AC probands (n = 65) and association with MACE.
  • Table S5. Characteristics of relatives of AC probands who have Task Force Criteria for suspected AC in the validation cohort.
  • Table S6. Sequences of primer pairs used for qPCR.
  • Table S7. Description and calibration curve parameters of metabolites screened by targeted metabolomics.

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Other Supplementary Material for this manuscript includes the following: