Key result
Myelin regulatory factor mutations link to familial Scimitar syndrome and anomalous left circumflex artery.
Why the study?
Scimitar syndrome in conjunction with congenital coronary artery anomalies is a rare combination.
This report describes the first familial association between a myelin regulatory factor gene mutation and the combination of Scimitar syndrome and an anomalous left circumflex artery from the pulmonary artery.
Answers are grounded in this paper and cite their sources.
No immediate change to Scimitar syndrome management; leaves open a genetic link with myelin regulatory factor mutations needing validation.
Scimitar syndrome in conjunction with congenital coronary artery anomalies is a rare combination. We describe two siblings with both Scimitar syndrome and an anomalous left circumflex artery from the pulmonary artery, who were both found to have a genetic mutation in the myelin regulatory factor gene. This represents the first familial association between this gene and this CHD combination.
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Aitharaju et al. (2026) studied this question. Myelin regulatory factor gene mutations were identified in two siblings presenting with both Scimitar syndrome and an anomalous left circumflex artery from the pulmonary artery.
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