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Hypoplastic coronary arteries in a child with a mutation in Notch1: A case report
Xiaoqing Shi1, Jianxin Liu2, Jinlin Wu1
1Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Insights
This study reports a rare case of hypoplastic coronary artery disease in a child, linked for the first time to a NOTCH1 genetic mutation. This finding advances understanding of rare coronary artery abnormalities and their genetic basis.
Area of Science:
- Cardiology
- Genetics
- Pediatric Cardiology
Background:
- Coronary artery abnormalities pose significant clinical risks, including myocardial ischemia and sudden cardiac death.
- Anatomical malformations are common, but coronary artery hypoplasia is exceptionally rare and lacks genetic data.
- This case highlights the importance of investigating rare coronary artery conditions.
Observation:
- A 10-year-old boy presented with severe chest pain and syncope.
- Diagnostic imaging revealed abnormal origins and severe narrowing of the left coronary artery, with confirmed myocardial ischemia.
- Cardiac catheterization identified an extremely rare case of hypoplastic coronary artery.
Findings:
- A novel mutation in NOTCH1 (c.1023C>A) was identified in the patient.
- This is the first report to identify hypoplasia in three major epicardial coronary arteries.
- This case establishes a clinical link between NOTCH1 genetic disorders and hypoplastic coronary artery disease.
Implications:
- This research expands the understanding of rare coronary artery diseases.
- The identification of a NOTCH1 mutation provides a potential genetic marker for hypoplastic coronary artery disease.
- Further research into genetic factors influencing coronary artery development is warranted.
Rationale:
Coronary artery abnormalities are usually of major significance in clinical cardiology and cardiac surgery departments due to associated myocardial ischemia, myocardial infarction, and sudden cardiac death. Among them, anatomical malformations account for most coronary artery abnormalities. However, hypoplasia of the coronary artery is a rare type of coronary artery without any genetic screening information.
Patient Concerns:
A 10-year-old boy suffered severe chest pain, and a subsequent syncope occurred.
Diagnosis And Intervention:
The boy complained of significant chest pain with syncope. Computerized tomography (CT) angiography scanning showed that the left coronary artery was dominated by abnormal origins and dramatically narrow artery lesions. Moreover, cardiac magnetic resonance imaging (MRI) confirmed myocardial ischemia. Cardiac catheterization confirmed that this was an extremely rare hypoplastic coronary case. Finally, a mutation was identified in NOTCH1 c.1023C>A for the first time.
Outcomes:
The boy was discharged after completing all examinations and was forbidden to play any kind of sport activity while waiting for heart transplantation.
Lessons:
Hypoplastic coronary artery diseases have only been reported within very limited cases. This is the only report that has identified hypoplasia in 3 epicardial major coronary arteries. In addition, this is the first case to provide evidence between NOTCH1 genetic disorder and hypoplastic coronary artery disease in the clinic.
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