Truncus arteriosus

Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (<I>i.e.</I> truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.

Absent gallbladder

A developmental defect in which the gallbladder fails to form.

Total: 2

(per page)

PMID (PMCID)
27098067 (4839129)	MALE	Infant
	Neonatal diabetes and protein losing enteropathy: a case report.
	McMillan T, Girgis R, Sellers EA. BMC Med Genet. 2016;17:32.
	We report the case of a Caucasian male infant diagnosed shortly after birth with neonatal diabetes, truncus arteriosus type III, ventricular septal defect, atrial septal defect, an absent gallbladder and a right inguinal hernia.
24433315 (4102676)	FEMALE	Infant
	A novel mutation in GATA6 causes pancreatic agenesis.
	Stanescu DE, Hughes N, Patel P, De Leon DD. Pediatr Diabetes. 2015;16(1):67-70.
	The aim of this study was to describe a new mutation in GATA6 in an infant with pancreatic agenesis, associated with truncus arteriosus and absent gallbladder.