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Hypoplastic left heart syndrome-a scoping review.
1Department of Laboratory Medicine, University of Alberta, Edmonton, AB, Canada.
Translational Pediatrics
|May 19, 2025
Summary
Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect with a significant genetic component, though its exact causes remain elusive. Further research into endocardial involvement may offer new insights into HLHS pathogenesis.
Area of Science:
- Cardiology
- Genetics
- Developmental Biology
Background:
- Hypoplastic left heart syndrome (HLHS) affects approximately 3% of newborns with congenital heart disease.
- It is a leading cause of mortality in affected infants without timely surgical intervention or heart transplantation.
- While genetic factors are implicated, the specific genetic causes of HLHS are identified in only a subgroup of patients, suggesting complex etiology.
Purpose of the Study:
- To conduct a scoping review to identify, synthesize, and analyze existing scientific knowledge on Hypoplastic Left Heart Syndrome (HLHS).
- To explore the implications of current research regarding the etiology and pathogenesis of HLHS.
Main Methods:
- A comprehensive literature search was performed in PubMed/MEDLINE, Scopus, Web of Science, and Cochrane databases from January 1, 2019, to February 20, 2025.
- The search was supplemented by gray literature, including internet searches and medical textbooks.
- The research question focused on the basic data concerning the etiology and pathogenesis of HLHS.
Main Results:
- Out of 1,364 initially identified articles, 75 were selected for analysis, supplemented by 25 additional articles from references and gray literature.
- HLHS is characterized by underdeveloped left-sided heart structures and a dominant right ventricle, making it a complex congenital heart defect.
- Despite evidence of genetic influence and incomplete penetrance in models like the C57Bl/6J-b2b635Clo/J (Ohia) mice, the precise genetic cause of HLHS remains largely unknown and genetically heterogeneous.
Conclusions:
- HLHS is a complex congenital heart disease necessitating further investigation.
- The role of the endocardium in ventricular hypoplasia progression is explored, potentially explaining morphological alterations due to compromised blood flow.
- Findings suggest a combinatorial genetic approach may underlie HLHS, supporting a new paradigm for its complex genetics.
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