Persistent truncus arteriosus

Definition:

Persistent truncus arteriosus (PTA) is a rare congenital condition in which a solitary arterial trunk arises from the base of the heart and supplies the coronary, pulmonary and systemic arteries. It is recognized as the most severe phenotype of outflow tract defect, and survival into adulthood is dismal without surgery. It is often associated with an unfavorable prognosis because complete surgical repair is not always possible. Mutations in the NKX2-6 gene and GATA6 gene have been found in patients with PTA. The association between truncus arteriosus and chromosome 22q11 deletion is well recognized.

References:

[1]. D B McElhinney, et al. Chromosome 22q11 deletion in patients with truncus arteriosus. Pediatr Cardiol. 2003 Nov-Dec;24(6):569-73. [Content Brief]

[2]. Kazuki Kodo, et al. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13933-8. [Content Brief]

[3]. Kirsten Heathcote, et al. Common arterial trunk associated with a homeodomain mutation of NKX2.6. Hum Mol Genet. 2005 Mar 1;14(5):585-93. [Content Brief]

[4]. Wen Ruan, et al. Surgical correction of persistent truncus arteriosus on a 33-year-old male with unilateral pulmonary hypertension from migration of pulmonary artery band. J Cardiothorac Surg. 2016 Mar 29;11:39. [Content Brief]

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