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.

Hydronephrosis

Severe distention of the kidney with dilation of the renal pelvis and calices.

Total: 2

(per page)

PMID (PMCID)
15565585	FEMALE	Adult
	Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis.
	Suwanrath-Kengpol C, Limprasert P, Mitarnun W. Prenat Diagn. 2004;24(11):887-9.
	A hydropic female fetus was aborted and the autopsy revealed hydrops fetalis with bilateral cleft lips, hydronephrosis of left kidney, absence of right kidney, spleen, and thymus gland, truncus arteriosus, and single umbilical artery.
11491308	FEMALE	Infant
	Combined trisomy 9P and Shprintzen syndrome resulting from a paternal t(9;22).
	Komatsu H, Kihara A, Komura E, Mitsufuji N, Tsujii H, Kakita S, Ikuta H. Genet Couns. 2001;12(2):137-43.
	In addition to the clinical features characteristic of trisomy 9p syndrome, the patient had Truncus arteriosus type A2, bilateral hydronephrosis, palatal anomaly, retrognathia, and laryngeal hypotonia, which are likely to be attributed to 22q11.2 deletion.