Hypoplastic coronary arteries in a child with a mutation in
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Coronary artery abnormalities are usually of major significance in clinical cardiology and cardiac surgery due to associated myocardial ischemia, myocardial infarction, and sudden cardiac death. However, hypoplasia of the coronary artery is a rare type of coronary artery without any genetic screening information.

A 10-year-old boy suffered severe chest pain, and a subsequent syncope occurred. 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.

The boy was discharged after completing all examinations and was forbidden to play any kind of sport activity while waiting for heart transplantation. 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.

source: https://journals.lww.com/md-journal/Fulltext/2020/08140/Hypoplastic_coronary_arteries_in_a_child_with_a.21.aspx