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Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.
Features include always present findings: Hypoplastic left heart. 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 4 | Ventricular septal defect, Mitral atresia, Hypoplastic left heart |
NKX2-5 encodes NK2 homeobox 5 (324 aa). Transcription factor required for the development of the heart and the spleen. During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4. Highest expression in Heart Atrial Appendage (113.7 TPM) and Heart Left Ventricle (108.3 TPM).
Hypoplastic left heart syndrome 2 is associated with mutations in the NKX2-5 gene on chromosome 5.
The NKX2-5 protein participates in Expression of NKX2-5 in cardiogenesis, GATA4, SMAD1:SMAD4, MEF2C, TBX20, and NKX2-5 bind the NKX2-5 gene, and GATA4 and NKX2-5 bind the HAND1 gene pathways.
NKX2-5 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 4.0.
Genetic testing for NKX2-5 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for hypoplastic left heart syndrome 2 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for hypoplastic left heart syndrome 2.
230 publications have been identified in PubMed for hypoplastic left heart syndrome 2. Research spans Epidemiology / Natural History (33%), Clinical Trial Publication (23%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 77 | 33% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Clinical study results
52 |
23% |
Patient case studies | 38 | 17% |
Laboratory research | 29 | 13% |
Testing and diagnosis research | 15 | 7% |
Research summaries | 15 | 7% |
New treatment approaches | 3 | 1% |
Other research | 1 | 0% |
Leonhard R (2026). [PMID: 42200818](https://pubmed.ncbi.nlm.nih.gov/42200818/). *Pathophysiology*. [Review / Meta-Analysis]
Glenn TM (2026). [PMID: 41878814](https://pubmed.ncbi.nlm.nih.gov/41878814/). *Circulation*. [Epidemiology / Natural History]
Tokumoto A (2026). [PMID: 42056538](https://pubmed.ncbi.nlm.nih.gov/42056538/). *Pediatr Res*. [Epidemiology / Natural History]
Muckleroy G (2026). [PMID: 40745509](https://pubmed.ncbi.nlm.nih.gov/40745509/). *Pediatr Cardiol*. [Epidemiology / Natural History]
Purlee MS (2026). [PMID: 40990805](https://pubmed.ncbi.nlm.nih.gov/40990805/). *World journal for pediatric & congenital heart surgery*. [Case Report / Case Series]
Aravind M (2026). [PMID: 41979316](https://pubmed.ncbi.nlm.nih.gov/41979316/). *Ann Card Anaesth*. [Case Report / Case Series]
Ganduboina R (2026). [PMID: 40525532](https://pubmed.ncbi.nlm.nih.gov/40525532/). *World J Pediatr Congenit Heart Surg*. [Clinical Trial Publication]
Wu X (2026). [PMID: 42104560](https://pubmed.ncbi.nlm.nih.gov/42104560/). *J Ultrasound Med*. [Diagnostic / Biomarker]
Vargas A (2026). [PMID: 40624190](https://pubmed.ncbi.nlm.nih.gov/40624190/). *Pediatric cardiology*. [Basic Science / Preclinical]
Oka N (2026). [PMID: 42027530](https://pubmed.ncbi.nlm.nih.gov/42027530/). *Ann Thorac Surg Short Rep*. [Case Report / Case Series]
AI-curated news mentioning hypoplastic left heart syndrome 2
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.