ArticlePediatric cardiology2018
The Genetic Landscape of Hypoplastic Left Heart Syndrome.
Article in Pediatric cardiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 66 citations in OpenAlex.
- Hypoplastic Left Heart Syndrome Cardiomyocytes Exhibit Intrinsic Stress Vulnerabilities and Augmented Stress Responses in vitro.Stem cell reviews and reports · 2026Article
- Animal models of hypoplastic left heart syndrome: genetic and anatomical approaches.Pediatric research · 2026Review
- Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.Bioinformatics (Oxford, England) · 2026Article
- Nonmuscle α-Actinin-4 Couples Sarcomere Function to Cardiac Remodeling.Circulation research · 2026Article
- Article
- Review
- Paraganglioma and phaeochromocytoma in adult Fontan patients.Journal of medical imaging and radiation oncology · 2025Article
- First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2025Review
- Validation of a Paralimbic-Related Subcortical Brain Dysmaturation MRI Score in Infants with Congenital Heart Disease.Journal of clinical medicine · 2024Article
- RNA binding proteins in cardiovascular development and disease.Current topics in developmental biology · 2024Article
- The role of primary cilia in congenital heart defect-associated neurological impairments.Frontiers in genetics · 2024Review
- Rare variants inHGG advances · 2023Article
- Article
- Insights into the genetic architecture of congenital heart disease from animal modeling.Zoological research · 2023Review
- Induced Pluripotent Stem Cell-Based Modeling of Single-Ventricle Congenital Heart Diseases.Current cardiology reports · 2023Review
- Narrative review of single ventricle: where are we after 40 years?Translational pediatrics · 2023Review
- The care of the patients with hipoplastic left heart syndrome in places of social and economic vulneability. An ethical analysis.Revista do Colegio Brasileiro de Cirurgioes · 2023Article
- Genome Editing and Myocardial Development.Advances in experimental medicine and biology · 2023Review
- Endocardium in Hypoplastic Left Heart Syndrome: Implications from In Vitro Study.Journal of cardiovascular development and disease · 2022Article
- Intrinsic myocardial defects underlie an Rbfox-deficient zebrafish model of hypoplastic left heart syndrome.Nature communications · 2022Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Hypoplastic left heart syndrome (HLHS) is one of the most lethal congenital heart defects, and remains clinically challenging. While surgical palliation allows most HLHS patients to survive their critical heart disease with a single-ventricle physiology, many will suffer heart failure, requiring heart transplantation as the only therapeutic course. Current paradigm suggests HLHS is largely of hemodynamic origin, but recent findings from analysis of the first mouse model of HLHS showed intrinsic cardiomyocyte proliferation and differentiation defects underlying the left ventricular (LV) hypoplasia. The findings of similar defects of lesser severity in the right ventricle suggest this could contribute to the heart failure risks in surgically palliated HLHS patients. Analysis of 8 independent HLHS mouse lines showed HLHS is genetically heterogeneous and multigenic in etiology. Detailed analysis of the Ohia mouse line accompanied by validation studies in CRISPR gene-targeted mice revealed a digenic etiology for HLHS. Mutation in Sap130, a component of the HDAC repressor complex, was demonstrated to drive the LV hypoplasia, while mutation in Pcdha9, a protocadherin cell adhesion molecule played a pivotal role in the valvular defects associated with HLHS. Based on these findings, we propose a new paradigm in which complex CHD such as HLHS may arise in a modular fashion, mediated by multiple mutations. The finding of intrinsic cardiomyocyte defects would suggest hemodynamic intervention may not rescue LV growth. The profound genetic heterogeneity and oligogenic etiology indicated for HLHS would suggest that the genetic landscape of HLHS may be complex and more accessible in clinical studies built on a familial study design.
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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.