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.

Immunodeficiency

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.


Total: 2

                      


(per page)
PMID (PMCID)
18493898
FEMALE Infant, Newborn
Congenital microgastria and primary ciliary dyskinesia in a newborn with DiGeorge syndrome and 22q11.2 deletion.
Filippi L, Serafini L, Fiorini P, Agostini E, Giovannucci Uzielli ML.
Eur J Pediatr Surg. 2008;18(3):195-7.
The case of a female newborn with multiple abnormalities, including cardiovascular malformation (type I truncus arteriosus communis) with deletion of chromosome 22q11.2, severe immunodeficiency (DiGeorge syndrome), microgastria, and impaired mucociliary function (primary ciliary dyskinesia) is reported.
17431914
MALE Infant
Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.
Dempsey MA, Schwartz S, Waggoner DJ.
Am J Med Genet A. 2007;143A(10):1082-6.
We report on a male with truncus arteriosus and an interrupted aortic arch, immunodeficiency, and hypocalcemia.