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.

Rhizomelia

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).


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(per page)
PMID (PMCID)
25898814
(4896393)
 MIXED_SAMPLE Infant, Newborn
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA.
Am J Med Genet A. 2015;167(6):1360-4.
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
25898814
(4896393)
 MIXED_SAMPLE Infant, Newborn
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA.
Am J Med Genet A. 2015;167(6):1360-4.
The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly.