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Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.
Features include sometimes findings: Aortic valve stenosis, Coarctation of aorta, and Hypoplastic left heart.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 2 | Aortic valve stenosis, Hypoplastic left heart |
Biomarker and diagnostic research for hypoplastic left heart syndrome 1 has been reported in the published literature.
No clinical trials have been registered for hypoplastic left heart syndrome 1.
27 publications have been identified in PubMed for hypoplastic left heart syndrome 1. Research spans Clinical Trial Publication (37%), Epidemiology / Natural History (37%), and Basic Science / Preclinical (11%).
Research Type | Count | % of Total |
|---|---|---|
Clinical study results | 10 | 37% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC
Online Mendelian Inheritance in Man
Disease patterns and progression
10 |
37% |
Laboratory research | 3 | 11% |
Research summaries | 2 | 7% |
Testing and diagnosis research | 1 | 4% |
Patient case studies | 1 | 4% |
Vargas A (2026). [PMID: 40624190](https://pubmed.ncbi.nlm.nih.gov/40624190/). *Pediatric cardiology*. [Clinical Trial Publication]
Czosek RJ (2026). [PMID: 41404994](https://pubmed.ncbi.nlm.nih.gov/41404994/). *Pacing and clinical electrophysiology : PACE*. [Review / Meta-Analysis]
Glenn TM (2026). [PMID: 41878814](https://pubmed.ncbi.nlm.nih.gov/41878814/). *Circulation*. [Epidemiology / Natural History]
Javier RM (2026). [PMID: 41877030](https://pubmed.ncbi.nlm.nih.gov/41877030/). *BMC Cardiovasc Disord*. [Review / Meta-Analysis]
Stokes S (2025). [PMID: 40923389](https://pubmed.ncbi.nlm.nih.gov/40923389/). *Molecular genetics & genomic medicine*. [Diagnostic / Biomarker]
Elkafrawi D (2025). [PMID: 39470009](https://pubmed.ncbi.nlm.nih.gov/39470009/). *Journal of perinatal medicine*. [Epidemiology / Natural History]
Osawa T (2025). [PMID: 40108344](https://pubmed.ncbi.nlm.nih.gov/40108344/). *Interdisciplinary cardiovascular and thoracic surgery*. [Basic Science / Preclinical]
Beauchamp DN (2025). [PMID: 41168943](https://pubmed.ncbi.nlm.nih.gov/41168943/). *Journal of the American Heart Association*. [Clinical Trial Publication]
Fogarty WM (2025). [PMID: 41019900](https://pubmed.ncbi.nlm.nih.gov/41019900/). *Journal of the Society for Cardiovascular Angiography & Interventions*. [Clinical Trial Publication]
Morales-Demori R (2025). [PMID: 39325157](https://pubmed.ncbi.nlm.nih.gov/39325157/). *Pediatric cardiology*. [Clinical Trial Publication]
AI-curated news mentioning hypoplastic left heart syndrome 1
Updated Sep 8, 2026
A new study identifies genetic determinants linked to early heart failure in patients with hypoplastic left heart syndrome. This research could inform future therapeutic strategies and genetic screening approaches.
A case report highlights protein-losing enteropathy in a child with hypoplastic left heart syndrome following Fontan palliation. This condition may provide insights into post-operative complications in pediatric cardiac patients.
The clinical trial enrolled 40 pediatric patients at twelve premiere infant and children’s treatment institutions across the country. ELPIS II is being conducted in collaboration with the National Heart, Lung, and Blood Institute (NHLBI) through grants from the NIH. The laromestorcel HLHS program has received three FDA designations: Orphan Drug designation, Fast Track designation and Rare Pediatric Disease ... The clinical trial enrolled 40 pediatric patients at twelve premiere infant and children’s treatment institutions across the country. ELPIS II is being conducted in collaboration with the National Heart, Lung, and Blood Institute (NHLBI) through grants from the NIH. The laromestorcel HLHS program has received three FDA designations: Orphan Drug designation, Fast Track designation and Rare Pediatric Disease designation. Longeveron announced that a constructive Type C meeting with the U.S. FDA was held to discuss the ongoing development of laromestrocel in HLHS.... (NASDAQ: LGVN), a clinical stage regenerative medicine biotechnology company developing cellular therapies for life-threatening and chronic aging-related conditions, today announced that a constructive Type C meeting with the U.S. Food and Drug Administration (FDA or Agency) was held in late March, with the FDA providing their meeting summary in late April, to discuss the ongoing development of laromestrocel (LOMECEL-B®), a proprietary, scalable, allogeneic, investigational cellular therapy currently being evaluated in a Phase 2b clinical trial (ELPIS II) for hypoplastic left heart syndrome ( Laromestrocel development programs have received five distinct and important FDA designations: for the HLHS program - Orphan Drug designation, Fast Track designation, and Rare Pediatric Disease designation; and, for the AD program - Regenerative Medicine Advanced Therapy (RMAT) designation and Fast Track designation.