ArticleNature genetics2017
The complex genetics of hypoplastic left heart syndrome.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 157 papers, 1 of them a synthesis that pooled it.
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Who cites it
157 citing papers in PubMed, 1 synthesis or guideline pooled it, 231 citations in OpenAlex.
- Genome-wide association and multi-omics analyses provide insights into the disease mechanisms of central serous chorioretinopathy.Scientific reports · 2025Pooled it
- Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease.Molecular genetics & genomic medicine · 2026Article
- In Vivo 4D Oxy-Wavelet MRI as a Non-Invasive Biomarker of Brain Mitochondrial Function across the Lifespan.bioRxiv : the preprint server for biology · 2026Article
- Is There a Unified Etiology of Hypoplastic Left Heart Syndrome? Evaluating Genetic, Structural, and Hemodynamic Models of Disease Initiation.Pathophysiology : the official journal of the International Society for Pathophysiology · 2026Review
- Mitochondrial dysfunction underlies cardiac contractility and growth defects in a zebrafish model ofbioRxiv : the preprint server for biology · 2026Article
- Inhibition of Cyclophilin D Rescues Cardiac Function and Bioenergetic Defects Caused by Neonatal Hypoxia.JACC. Basic to translational science · 2026Article
- Animal models of hypoplastic left heart syndrome: genetic and anatomical approaches.Pediatric research · 2026Review
- Ventricular assist device unloading reverses microvascular senescence in single ventricle disease.Nature cardiovascular research · 2026Article
- Modeling patient variants ofbioRxiv : the preprint server for biology · 2026Article
- Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.Case reports in genetics · 2026Article
- Complex-specific HDAC1/2 regulation in the heart: insights from MiDAC disruption.American journal of physiology. Heart and circulatory physiology · 2026Article
- Article
- Right Ventricular Myocardial Strain and Proteomic Analysis of Fetuses With Left Ventricular Hypoplasia: A Cross-Sectional Study.Health science reports · 2025Article
- Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.Science advances · 2025Article
- Review
- Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.American journal of human genetics · 2025Article
- NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity.bioRxiv : the preprint server for biology · 2025Article
- Hypoplastic left heart syndrome-a scoping review.Translational pediatrics · 2025Review
- Recessive genetic contribution to congenital heart disease in 5,424 probands.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease.Nature communications · 2025Article
97 more citing papers are in PubMed but not listed here.
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Authors and funding
34 authors at 8 institutions in 1 country.
Funding
Abstract
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS. Mutations in Sap130 and Pcdha9, genes not previously associated with CHD, were validated by CRISPR-Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.