Metabolomics: A New Tool in Our Understanding of Congenital Heart Disease.
Pier Paolo BassareoColin Joseph McMahonPublished in: Children (Basel, Switzerland) (2022)
Although the genetic origins underpinning congenital heart disease (CHD) have been extensively studied, genes, by themselves, do not entirely predict phenotypes, which result from the complex interplay between genes and the environment. Consequently, genes merely suggest the potential occurrence of a specific phenotype, but they cannot predict what will happen in reality. This task can be revealed by metabolomics, the most promising of the "omics sciences". Though metabolomics applied to CHD is still in its infant phase, it has already been applied to CHD prenatal diagnosis, as well as to predict outcomes after cardiac surgery. Particular metabolomic fingerprints have been identified for some of the specific CHD subtypes. The hallmarks of CHD-related pulmonary arterial hypertension have also been discovered. This review, which is presented in a narrative format, due to the heterogeneity of the selected papers, aims to provide the readers with a synopsis of the literature on metabolomics in the CHD setting.
Keyphrases
- congenital heart disease
- pulmonary arterial hypertension
- mass spectrometry
- genome wide
- pulmonary artery
- single cell
- pulmonary hypertension
- genome wide identification
- risk assessment
- dna methylation
- metabolic syndrome
- genome wide analysis
- copy number
- type diabetes
- coronary artery
- skeletal muscle
- climate change
- adipose tissue
- transcription factor