Truncus Arteriosus Clinical Presentation
- Author: Doff B McElhinney, MD; Chief Editor: Howard S Weber, MD, FSCAI more...
Historical presentation of patients with truncus arteriosus (TA) who are not diagnosed before the onset of symptoms typically consists of the following:
Symptoms vary and may be more or less pronounced, depending on specific anatomic features and age at presentation. For example, patients with significant truncal valve regurgitation tend to present earlier with more profound symptoms of congestive heart failure.
Patients with truncus arteriosus often present with cyanosis and are typically found to have decreased systemic arterial oxygen saturation. Cyanosis may not be evident, especially in very young neonates in whom pulmonary vascular resistance remains elevated. Even in slightly older neonates and young infants, pulmonary overcirculation and streaming of left and right ventricular outflow into the aorta and pulmonary arteries, respectively, may occasionally result in systemic oxyhemoglobin saturation well above 90%.
Symptoms and signs of congestive heart failure are probably more common findings than cyanosis in patients presenting early in life. Symptoms of failure typically manifest as pulmonary vascular resistance falls and pulmonary overcirculation increases. With progressively increasing pulmonary blood flow and, consequently, myocardial work, the initial symptoms of congestive heart failure (eg, poor feeding, diaphoresis, mild lethargy) become more evident as failure to thrive ensues.
Patients occasionally present in extremis, with the usual high output failure exacerbated by significant regurgitation of the truncal valve. Patients with associated interruption of the aortic arch may exhibit a shocklike picture of cardiovascular collapse during ductal closure, although the arterial duct frequently remains patent in patients with truncus and interrupted arch, even without pharmacologic therapy.
As with most forms of congenital heart disease, the causes of truncus arteriosus are unknown. In experimental animal models, truncus arteriosus has been linked to abnormal development of cells from the neural crest that normally inhabit the outflow region of the developing heart. This is thought to be an important etiologic factor in at least some cases of human truncus arteriosus also.
As with various other congenital cardiac anomalies of the conotruncal region, a substantial number of patients with truncus arteriosus (approximately 30-40%) have microdeletions within chromosome band 22q11.2, which contains a number of characterized genes. This particular type of chromosomal deletion is thought to affect migration or development of cardiac neural crest cells and may contribute to the pathogenesis of truncus arteriosus in certain cases.
Patients with truncus arteriosus and anomalies of the branch pulmonary arteries, such as stenosis or separate origin from the undersurface of the aortic arch, may have a higher incidence of association with band 22q11 deletion. Other specific features of truncus arteriosus that may be related to chromosomal deletion have yet to be characterized.
The specific gene product or products responsible for cardiovascular anomalies in individuals with a 22q11 deletion has not been identified definitively in humans, although one of the genes in the 22q11.2 band, TBX1, has been shown to be involved pharyngeal arch and conotruncal development. Extensive research regarding truncus arteriosus and band 22q11 association is being conducted.
For the most part, other factors that may cause truncus arteriosus in humans have not been clearly identified, although potential associations have been suggested, such as the following:
Other sporadic chromosomal and genetic abnormalities have been reported in humans with truncus arteriosus, including duplication of chromosome arm 8q and mutation of the NKX2.6 and GATA6 genes. 
Several other genes have been associated with truncus arteriosus in transgenic mouse models, including Tbx20, ALK2, Cited2, and Semaphorin 3c, but so far these genes have not been implicated in human truncus arteriosus.
Although certain teratogens (eg, retinoic acid, bis-diamine) have been found to predispose to truncus arteriosus in animal models, no evidence suggests that these or others contribute importantly to this anomaly in humans.
DiGeorge syndrome or velocardiofacial syndrome, often included together as variations of CATCH-22 syndrome, are present in approximately 30-35% of patients with truncus arteriosus; most of these patients have deletions in band 22q11.
The most common noncardiac anomalies in patients with truncus arteriosus are those typically found in association with CATCH-22 syndrome, such as velopharyngeal insufficiency, cleft palate, and thymic and parathyroid dysfunction.
Other noncardiac anomalies found sporadically in patients with truncus arteriosus include renal abnormalities, vertebral and rib anomalies, and anomalies of the alimentary tract.
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