eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology

Interrupted Aortic Arch: Differential Diagnoses & Workup

Author: Alvin J Chin, MD, Professor of Pediatrics, Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine
Contributor Information and Disclosures

Updated: Oct 6, 2009

Differential Diagnoses

Coarctation of the Aorta
DiGeorge Syndrome
Neonatal Sepsis
Velocardiofacial Syndrome

Workup

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 deletion27 seen in 85-90% of patients with DiGeorge syndrome.

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.28 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.

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.

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.

More on Interrupted Aortic Arch

Overview: Interrupted Aortic Arch
Differential Diagnoses & Workup: Interrupted Aortic Arch
Treatment & Medication: Interrupted Aortic Arch
Follow-up: Interrupted Aortic Arch
Multimedia: Interrupted Aortic Arch
References
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References

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Further Reading

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Keywords

interrupted aortic arch, IAA, IAA type A, IAA type B, IAA type C, interrupted left aortic arch, nonrestrictive ventricular septal defect, ductus arteriosus, large aortopulmonary window, truncus arteriosus, CHARGE syndrome, coloboma, heart disease, atresia choanae, retarded growth and development, CNS anomalies, genital hypoplasia, deafness, ear anomalies, DiGeorge syndrome, aortic valve, subaortic stenosis, treatment, diagnosis

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Contributor Information and Disclosures

Author

Alvin J Chin, MD, Professor of Pediatrics, Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine
Alvin J Chin, MD is a member of the following medical societies: American Association for the Advancement of Science and American Heart Association
Disclosure: Nothing to disclose.

Medical Editor

Charles I Berul, MD, Professor of Pediatrics, 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 Congential Electrophysiology Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

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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