• Xiaoqing Xs, Jianxin Liu, Jinlin Wu, Yimin Hua, Kaiyu Zhou, and Yifei Li.
• aKey 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 bState Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
• Medicine (Baltimore). 2020 Aug 14; 99 (33): e21355.

RationaleCoronary 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 ConcernsA 10-year-old boy suffered severe chest pain, and a subsequent syncope occurred.Diagnosis And InterventionThe 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.OutcomesThe boy was discharged after completing all examinations and was forbidden to play any kind of sport activity while waiting for heart transplantation.LessonsHypoplastic 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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