ArticleCurrent genomics2015
Tetralogy of Fallot and Hypoplastic Left Heart Syndrome - Complex Clinical Phenotypes Meet Complex Genetic Networks.
Article in Current genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.Circulation. Genomic and precision medicine · 2021Trial
- Functional annotation of non-coding variants identifies a novel enhancer with activity in neural crest cell-derived lineages.Research square · 2026Article
- The trends of congenital heart defects burden in BRICS-plus from 1990 to 2021 and its projection to 2035.BMC pregnancy and childbirth · 2026Observational
- Delving into the Molecular World of Single Ventricle Congenital Heart Disease.Current cardiology reports · 2022Review
- Cardiac proteomics reveals sex chromosome-dependent differences between males and females that arise prior to gonad formation.Developmental cell · 2021Article
- Mending a broken heart:Disease models & mechanisms · 2021Review
- Induced pluripotent stem cells of patients with Tetralogy of Fallot reveal transcriptional alterations in cardiomyocyte differentiation.Scientific reports · 2020Article
- Dysregulation of Notch signaling in cardiac mesenchymal cells of patients with tetralogy of Fallot.Pediatric research · 2020Article
- Altered microRNA and target gene expression related to Tetralogy of Fallot.Scientific reports · 2019Article
- RhoGTPase in Vascular Disease.Cells · 2019Review
- Microarray analysis reveals key genes and pathways in Tetralogy of Fallot.Molecular medicine reports · 2017Article
- MicroRNAs: pleiotropic players in congenital heart disease and regeneration.Journal of thoracic disease · 2017Review
- A Path to Implement Precision Child Health Cardiovascular Medicine.Frontiers in cardiovascular medicine · 2017Review
- Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.Journal of human genetics · 2016Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In many cases congenital heart disease (CHD) is represented by a complex phenotype and an array of several functional and morphological cardiac disorders. These malformations will be briefly summarized in the first part focusing on two severe CHD phenotypes, hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). In most cases of CHD the genetic origin remains largely unknown, though the complexity of the clinical picture strongly argues against a dysregulation which can be attributed to a single candidate gene but rather suggests a multifaceted polygenetic origin with elaborate interactions. Consistent with this idea, genome-wide approaches using whole exome sequencing, comparative sequence analysis of multiplex families to identify de novo mutations and global technologies to identify single nucleotide polymorphisms, copy number variants, dysregulation of the transcriptome and epigenetic variations have been conducted to obtain information about genetic alterations and potential predispositions possibly linked to the occurrence of a CHD phenotype. In the second part of this review we will summarize and discuss the available literature on identified genetic alterations linked to TOF and HLHS.
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