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.

Oligodactyly

A developmental defect resulting in the presence of fewer than the normal number of digits.


Total: 1

                      


(per page)
PMID (PMCID)
9182778
MIXED_SAMPLE Adult
New insights into the phenotypes of 6q deletions.
Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM.
Am J Med Genet. 1997;70(4):377-86.
Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including truncus arteriosus and bilateral oligodactyly.