Right Aortic Arch in Vascular Ring Defects Clinical Presentation

  • Author: Doff B McElhinney, MD; Chief Editor: Steven R Neish, MD, SM   more...
 
Updated: Mar 27, 2012
 

History

The history of patients with right aortic arch and vascular ring depends on several factors, including the severity of tracheal compression, esophageal compression, or both and whether associated anomalies are present.

  • Among patients with a vascular ring, those with right aortic arch tend to present slightly later than those with a double aortic arch, but this is a minor difference and is not a reliable distinguishing feature. The classic history of a patient with a vascular ring is noisy breathing noted by the parents during the first few weeks of life.
  • Young patients may have experienced episodes often referred to as apparent life-threatening events (ALTE) or "death spells," in which they experience acute apneic or severe obstructive events accompanied by cyanosis. Patients with less severe tracheal compression may provide a history of persistent respiratory symptoms without frank stridor, often treated as asthma or bronchiolitis, or they may present with recurrent lower respiratory infections. Esophageal symptoms include emesis, choking, or dysphagia and are more common in older infants and children than in young infants.
  • Occasionally, patients may reach older childhood or adulthood before developing persistent or progressive symptoms of dysphagia or respiratory symptoms or both.
  • Rarely, vascular rings may be diagnosed prenatally based on fetal ultrasonography echocardiography findings.
  • In newborn infants with associated cardiac or noncardiac anomalies, the ring may be diagnosed incidentally during the course of evaluation for the other anomalies.
  • Abnormalities of aortic arch sidedness and branching are common in patients with a chromosome 22q11 deletion. A substantial proportion of individuals diagnosed with a chromosome 22q11 deletion beyond age 6 months have been found to have aortic arch anomalies, including clinically occult vascular rings.
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Physical

Physical findings can vary, often in accordance with the historic presentation.

  • Newborns with associated anomalies may have no evidence of a vascular ring upon physical examination, but this situation is the exception because most patients have readily recognizable physical signs.
  • The classic sign of vascular rings in general is nonpositional stridor; however, many young infants with a ring have adventitious expiratory breath sounds as well as the characteristic inspiratory stridor. The respiratory findings generally do not improve with nebulized bronchodilator therapy and are usually more prominent with agitation or crying.
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Causes

  • Factors responsible for aberrant development of the aortic arch and its branches, as occurs in patients with vascular rings, have not been clearly identified, and the pathogenesis of these anomalies remains unclear. Vascular rings with a right aortic arch typically occur without associated cardiovascular defects, although other lesions may be present, and accordingly are not usually found as part of a syndromic complex.
  • In a study from the author's institution, band 22q11 deletions were found in 8 of 34 patients (24%) with a right aortic arch, vascular ring, and no other cardiac defects.[2] The deletion was found in 8 of 29 patients (28%) with a right arch, aberrant left subclavian artery, and left-sided ductus from the aberrant left subclavian artery to the left pulmonary artery and in none of 5 patients with a right arch, mirror-image branching of the brachiocephalic vessels, and a left ductus from the descending aorta to the left pulmonary artery.
    • This chromosomal anomaly is associated with aortic arch anomalies in patients with other forms of conotruncal heart disease as well as other isolated vascular abnormalities, and band 22q11 deletion is likely an important etiologic factor in vascular rings with a right aortic arch.
    • Although band 22q11 deletion was not found in 5 patients with a vascular ring formed by a mirror-image right arch and a left ductus from the descending aorta, this sample is too small to rule out a potential association.
    • In general, most band 22q11 deletions arise de novo, and no recognizable inheritance pattern is present.
  • Aortic arch anomalies, including vascular rings, have been induced in various animal models, such as neural crest–ablated chicks, mice with disrupted genes for the endothelin-A receptor or endothelin-converting enzyme, and others. The mechanisms and significance of these models for understanding the development of vascular rings have not been elucidated.
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Contributor Information and Disclosures
Author

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 and American College of Cardiology

Disclosure: Nothing to disclose.

Coauthor(s)

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, and American Heart Association

Disclosure: Nothing to disclose.

Specialty Editor Board

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, and International Society for Heart and Lung Transplantation

Disclosure: Actelion Honoraria Speaking and teaching

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.

Gilbert Z Herzberg, MD  Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Steven R Neish, MD, SM  Director of Pediatric Cardiology Fellowship Program, Associate Professor, Department of Pediatrics, Baylor College of Medicine

Steven R Neish, MD, SM is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Heart Association

Disclosure: Nothing to disclose.

References

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Left: Schematic diagram of the primitive pharyngeal arch system showing the left (L) and right (R) external carotid (EC) and internal carotid (IC) arteries, the fourth (IV) and sixth (VI) pharyngeal arches, distal pulmonary arterial segments (PA), dorsal aortas (DA), and seventh intersegmental arteries (VII). The proximal (p) sixth arches develop into the proximal pulmonary arteries, and the distal (d) sixth arches become the arterial ducts. The seventh intersegmental arteries develop into the subclavian arteries. Right: Schematic diagram depicting the segments of the pharyngeal arch system that regress (shown in black) in order for normal development of the great arteries and their thoracic branches (common carotid artery [CCA], left pulmonary artery [LPA], ductus arteriosus [PDA], right pulmonary artery [RPA], subclavian artery [SCA]).
Left: Schematic diagram depicting the segments of the pharyngeal arch system that regress (shown in black) in order for the development of a right aortic arch with aberrant left subclavian artery. Abbreviations are as in the first image. Right: Mature anatomy of a vascular ring formed by a right aortic arch with an aberrant left subclavian artery arising from a retroesophageal diverticulum with a left-sided ligamentum arteriosum to the left pulmonary artery.
Left: Schematic diagram depicting the segments of the pharyngeal arch system that regress (shown in black) in order for the development of a right aortic arch with mirror-image branching of the brachiocephalic vessels and a left-sided ductus arteriosus from the descending aorta to the left pulmonary artery. Abbreviations are as in the first image. Right: Mature anatomy of a vascular ring formed by a right aortic arch with mirror-image branching of the brachiocephalic vessels and a left-sided ductus arteriosus from the descending aorta to the left pulmonary artery.
Left: Schematic diagram depicting the segments of the pharyngeal arch system that regress (shown in black) in order for the development of a right aortic arch with aberrant retroesophageal left innominate artery. Abbreviations are as in the first image. Right: Mature anatomy of a vascular ring formed by a right aortic arch with an aberrant retroesophageal left innominate artery with a left-sided ligamentum arteriosum to the left pulmonary artery.
 
 
 
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