Interrupted Aortic Arch Workup

  • Author: Alvin J Chin, MD; Chief Editor: Steven R Neish, MD, SM   more...
 
Updated: Nov 7, 2011
 

Laboratory Studies

  • The most helpful blood test in interrupted aortic arch (IAA) is the ABG to confirm the presence of metabolic acidosis.
  • A serum calcium measurement is occasionally informative because many patients with interrupted aortic arch have DiGeorge syndrome, including the hypoparathyroidism phenotype.
  • Fluorescent in situ hybridization (FISH) can reveal the typical 22q11.2 deletion[36] seen in 85-90% of patients with DiGeorge syndrome.
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Imaging Studies

  • Two-dimensional echocardiography and Doppler analysis
    • Two-dimensional echocardiography is diagnostic for interrupted aortic arch. In addition, it can usually provide at least indirect evidence for the presence or absence of aberrant right subclavian artery. Occasionally, the presence of an isolated right subclavian artery can be detected. A suprasternal frontal sweep followed by left oblique and sagittal cuts is recommended.
    • Color-flow Doppler analysis may assist in the ultrasonographic tracing of such vessels by rapidly distinguishing them from venous structures. Furthermore, in the patient whose ductus arteriosus has markedly reduced in size, 2-dimensional and Doppler analysis can be used to monitor the effect of exogenous prostaglandin E1 on this structure.
    • The size and anatomic type of the ventricular septal defect (VSD) can also be identified. In the setting of a large VSD, additional small VSDs can be missed, just as with cardiac catheterization. The most important contribution of 2-dimensional echocardiography to the preoperative characterization of patients with interrupted aortic arch is the display of the aortic outflow region. The presence of thymus can be ascertained as well.
    • Echocardiography also demonstrates the site of arch interruption, the size and anatomic type of the ventricular septal defect, the morphology of the aortic valve, and the anatomic severity of subaortic hypoplasia.[37] Aortic valve and subaortic abnormalities are present in 50-80% of patients with interrupted aortic arch.
  • Chest radiography
    • Chest radiography findings vary.
    • Cardiothymic silhouette may be normal or increased. Patients with DiGeorge syndrome may have an absent thymus.
    • Pulmonary vascularity may be normal or increased.
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Other Tests

  • Common electrocardiography findings include right ventricular hypertrophy and ST-T wave abnormalities. Occasionally, QT prolongation is evident because of DiGeorge syndrome–related hypocalcemia.
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Procedures

  • Cardiac catheterization reveals the site of arch interruption, the size and anatomic type of ventricular septal defect, and the anatomic severity of subaortic hypoplasia. Cardiac catheterization also reveals whether the right subclavian artery is aberrant.
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Contributor Information and Disclosures
Author

Alvin J Chin, MD  Professor of Pediatrics, University of Pennsylvania School of Medicine; Attending Physician, Cardiology Division, Children's Hospital of Philadelphia

Alvin J Chin, MD, is a member of the following medical societies: American Association for the Advancement of Science, American Heart Association, and Society for Developmental Biology

Disclosure: Nothing to disclose.

Specialty Editor Board

Charles I Berul, MD  Professor of Pediatrics and Integrative Systems Biology, George Washington University School of Medicine; Chief, Division of Cardiology, Children's National Medical Center

Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Cardiac Electrophysiology Society, Heart Rhythm Society, Pediatric and Congenital Electrophysiology Society, and Society for Pediatric Research

Disclosure: Johnson & Johnson Consulting fee Consulting

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.

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Suprasternal echocardiographic identification of interrupted aortic arch Type B. Upper left: Frontal (coronal) view showing the takeoffs of the innominate artery (InnA) and left common carotid artery (LCCA). No connection is seen with the distal aorta. Upper right: Slightly more dorsal (posterior) frontal view showing the main pulmonary artery (MPA), large left-sided patent ductus arteriosus (PDA), and left-sided upper descending aorta (DescAo). The ascending aorta (AscAo) is not in discernible continuity with the descending aorta. Lower left: Left oblique view showing the LCCA takeoff and no discernible aortic arch. Lower right: sagittal view showing the origin of the left subclavian artery (LSCA) from the DescAo. Other Abbreviations: InnV= innominate vein; l=left; LPA=left pulmonary artery; p,l = posterior and leftward; s=superior; SVC=superior vena cava.
Section A depicts a subcostal frontal echocardiogram of interrupted aortic arch (IAA) type B with transposition of the great arteries. Section B shows a high parasternal echocardiogram showing that the innominate artery (Inn A) and left common carotid artery (LCCA) arise from the ascending aorta (a ao). In section C, the left subclavian artery (LSCA) arises from the descending aorta (desc ao), which is perfused by the ductus arteriosus.
This is the suprasternal sagittal ultrasonographic view of the patient shown in Media file 2. Arch continuity has now been restored by a side-to-side anastomosis. Abbreviations are as follows: a ao = ascending aorta and desc ao = descending aorta.
 
 
 
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