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Truncus Arteriosus Clinical Presentation

  • Author: Doff B McElhinney, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
Updated: Jan 14, 2015


Historical presentation of patients with truncus arteriosus (TA) who are not diagnosed before the onset of symptoms typically consists of the following:

  • Poor feeding
  • Diaphoresis
  • Tachypnea
  • Cyanosis

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. [5]
  • 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.
  • Several studies found that children of mothers with significant diabetes mellitus during pregnancy had an increased incidence of truncus arteriosus (as well as other conotruncal malformations) [6] ; however, this is not widely recognized as a significant risk factor. [7]
  • 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.

Contributor Information and Disclosures

Doff B McElhinney, MD Assistant Professor of Pediatrics, Harvard Medical School; Associate in Cardiology, Department of Cardiology, Children's Hospital of Boston

Doff B McElhinney, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology

Disclosure: Nothing to disclose.


Gil Wernovsky, MD, FACC, FAAP Professor, Department of Pediatrics, University of Pennsylvania, Children's Hospital of Philadelphia

Gil Wernovsky, MD, FACC, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Ameeta Martin, MD Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: St. Jude Medical.

Additional Contributors

Juan Carlos Alejos, MD Clinical Professor, Department of Pediatrics, Division of Cardiology, University of California, Los Angeles, David Geffen School of Medicine

Juan Carlos Alejos, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Medical Association, International Society for Heart and Lung Transplantation

Disclosure: Received honoraria from Actelion for speaking and teaching.

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Anatomic subtypes of truncus arteriosus (TA), according to the classification systems of both Collett and Edwards (I, II, III) and the Van Praaghs (A1, A2, A3, A4).
Pathologic specimen with truncus arteriosus (TA), viewed through the opened right ventricle and truncal valve. The common trunk (CT) can be seen giving off the ascending aorta (AA) as well as the left (LPA) and right (RPA) pulmonary arteries. The truncal valve straddles the ventricular septal defect (VSD). The tricuspid valve (TV) also is labeled. Photograph courtesy of Robert H. Anderson, MD.
Pathologic specimen with truncus arteriosus (TA) and interruption of the aortic arch between the left (L) common carotid (CCA) and subclavian (SCA) arteries, viewed from the anterior aspect. The common trunk (CT) is seen arising from the ventricular mass, including the right ventricular (RV) infundibulum. Pulmonary arteries arise as a single trunk from the leftward aspect of the common trunk, which then divides into left and right branches (not shown) and the arterial duct (DA), which continues into the descending aorta, from which the left subclavian artery arises. The ascending aorta (AA), which supplies only the right (R) and left common carotid arteries (the right subclavian artery, which arises anomalously as the last brachiocephalic branch, is not shown), continues from the rightward aspect of the common trunk and is much smaller than in patients without an interrupted arch. RA=right atrial appendage. Photograph courtesy of Robert H. Anderson, MD.
Echocardiographic images of truncus arteriosus (TA). The top image is from the subcostal coronal window (SC COR) and shows the common trunk (TR) arising from the left ventricle (LV), overriding the interventricular septum. The common trunk branches into the pulmonary trunk and the ascending aorta (AO). The left pulmonary artery (LPA) may be seen branching from the pulmonary trunk. RA=right atrium; RPA=right pulmonary artery. In the bottom image, which is from the suprasternal notch sagittal window, the truncal origin and course of the pulmonary trunk and left pulmonary artery can be appreciated. DAO=descending aorta; IV=innominate vein; LA=left atrium.
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