Aortic arch interruption

A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.

Perimembranous ventricular septal defect

A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.

Total: 1

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PMID (PMCID)
12503105	MIXED_SAMPLE	Infant, Newborn
	Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.
	Martin DM, Mindell MH, Kwierant CA, Glover TW, Gorski JL. Am J Med Genet A. 2003;116A(3):268-71.
	Here we report a male neonate with aortic arch interruption type B, secundum atrial septal defect, perimembranous ventricular septal defect, patent ductus arteriosus, aortic and subaortic stenosis, and trisomy 5q31.1q35.1 resulting from a maternal balanced insertion (20;5).