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Associations

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While the developmental underpinnings are poorly understood, truncus arteriosus is frequently associated with 22q11.2 microdeletion (Di George) syndrome in 12% to 35% of patients. Abnormalities in the secondary heart field and cardiac neural crest cells are likewise strongly implicated. (1)

Reference

  1. Yamagishi H. Clinical Developmental Cardiology for Understanding Etiology of Congenital Heart Disease. J Clin Med. 2022 Apr 24;11(9)

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