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

Atrioventricular Septal Defect, Partial and Intermediate: Differential Diagnoses & Workup

Author: M Silvana Horenstein, MD, Consultant, Pediatric and Fetal Cardiac Diagnostic, Diagnostico Gineco-Obstetrico, PC; Associate Medical Director, Legacy Department, Best Doctors, Inc
Coauthor(s): Michael A Portman, MD, Research Director, Department of Pediatrics, Division of Cardiology, Associate Professor, Childrens' Hospital
Contributor Information and Disclosures

Updated: Oct 3, 2008

Differential Diagnoses

Atrial Septal Defect, Coronary Sinus
Atrial Septal Defect, Ostium Secundum
Atrial Septal Defect, Sinus Venosus
Mitral Valve Insufficiency
Mitral Valve Prolapse
Partial Anomalous Pulmonary Venous Connection

Other Problems to Be Considered

Cleft mitral valve
Common atrium (usually associated with complex congestive heart disease [CHD])

Workup

Imaging Studies

  • In patients with atrioventricular septal defects (AVSDs), chest roentgenography usually reveals the following:
    • Prominent pulmonary artery segment and abnormally dense pulmonary vascular markings
    • Cardiac enlargement, especially enlargement of the right atrium (RA) and right ventricle (RV)
  • Echocardiography is the diagnostic method of choice.
    • Ostium primum defect is seen as an echo dropout in the lower portion of the septum at the crux of the heart.
    • Abnormal morphology of the atrioventricular valves can be studied in detail, including small inferior and mural leaflets, lack of coaptation of leaflets, and a cleft in the anterior mitral valve leaflet.
    • The attachments of the atrioventricular valves may extend into the left ventricular outflow tract (LVOT) and may create obstruction. Atrioventricular valve tissue may extend to the crest of the ventricular septum.
    • Apical 4-chamber view reveals the tricuspid and mitral valve components at the same level without the normal apical displacement of the tricuspid valve.
    • Anterior and superior displacement of the aorta, with elongation and narrowing of the LVOT, is seen in the long parasternal axis.
  • Doppler and color Doppler studies are used for the following:
    • Demonstration of left-to-right shunting through the atrial septal defect (ASD) and detection of presence and severity of mitral regurgitation (MR); shunting from the left ventricle (LV) to the RA may also be identified.
    • If tricuspid regurgitation is present, RV pressure may be estimated. Care is needed to interrogate tricuspid regurgitation rather than the LV-to-RA jet; otherwise, a falsely high ventricular pressure estimate results.
    • LVOT obstruction may be identified and quantitated.
    • Three dimensional (3-D) echocardiography has been shown to provide excellent quality images of the atrioventricular valve morphology and relationships with the rest of the cardiac structures.
    • It is also being used in centers to assess the dynamic morphology of the left-sided AV valve and LVOT anatomy after AVSD repair.
  • MRI is being more frequently used because more precise delineation of anatomy and evaluation of function may be obtained with this noninvasive method than with either echocardiography or angiography alone.
    • MRI can be used to help define morphologic abnormalities in AVSD as well as important anatomic variations.
    • MRI is particularly useful for evaluating shunt severity, expressed quantitatively as the ratio of pulmonary flow to systemic flow (Qp/Qs).

Other Tests

  • Classic anatomic studies of the conduction tissue have shown that the atrioventricular node is usually displaced posteriorly, originating in the posterior wall of the RA.
  • The bundle of His is posteriorly displaced and skirts the lower margin of the ventricular septal defect (VSD); the right bundle may give off several branches instead of continuing as a single trunk through the RV.
  • This unusually long course and peculiar orientation of the conduction tissue creates a different advancing front of depolarization, resulting in the following characteristic electrocardiographic (ECG) features:
    • The superior-oriented, counterclockwise vector loop in the frontal plane occurs commonly in AVSD.
    • The mean QRS axis ranges from -30 º to -120 º (mostly between -30 º and -90 º).
    • On the standard 12-lead ECG, the small R wave is followed by a prominent S wave in lead aVF; in aVL, a small Q wave is followed by a prominent R wave. This pattern is caused by abnormal septal depolarization in AVSD, including PR-interval prolongation and RV hypertrophy, particularly an rSR' or RSR' pattern.
    • P-wave enlargement concordant with RA, left atrium (LA), or biatrial enlargement is seen in approximately half of patients with AVSDs.
    • Indications of LV hypertrophy occur with severe MR and include prominent R-wave voltage in left precordial leads and a deep S wave in right precordial leads.

Procedures

  • Cardiac catheterization and angiography is no longer needed to confirm the diagnosis of partial AVSD.
  • This procedure may be performed if echocardiography is not sufficient to delineate anatomy and if pulmonary hypertension is suspected. The shunt can be measured, and the response of the pulmonary arterial pressure and resistance to pulmonary vasodilators can be assessed.
  • If present, LVOT obstruction can be quantified or other associated lesions can be evaluated.

More on Atrioventricular Septal Defect, Partial and Intermediate

Overview: Atrioventricular Septal Defect, Partial and Intermediate
Differential Diagnoses & Workup: Atrioventricular Septal Defect, Partial and Intermediate
Treatment & Medication: Atrioventricular Septal Defect, Partial and Intermediate
Follow-up: Atrioventricular Septal Defect, Partial and Intermediate
Multimedia: Atrioventricular Septal Defect, Partial and Intermediate
References
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References

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  3. Ten Harkel AD, Cromme-Dijkhuis AH, Heinerman BC, et al. Development of left atrioventricular valve regurgitation after correction of atrioventricular septal defect. Ann Thorac Surg. Feb 2005;79(2):607-12. [Medline].

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  5. Abbruzzese PA, Napoleone A, Bini RM. Late left atrioventricular valve insufficiency after repair of partial atrioventricular septal defects: anatomical and surgical determinants. Ann Thorac Surg. Jan 1990;49(1):111-4. [Medline].

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Further Reading

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Keywords

atrioventricular septal defect, AVSD, partial AVSD, partial atrioventricular septal defect, atrioventricular canal defect, mitral cleft, ostium primum defect, partial atrioventricular septal defect, partial common atrioventricular canal, endocardial cushion defects, intermediate atrioventricular septal defect, transitional common atrioventricular canal, ventricular septal defect, right ventricular outflow tract, pulmonary stenosis, pulmonary vascular obstructive disease, congenital heart defect, Down syndrome, mitral regurgitation, MR, congestive heart failure, failure to thrive, heart murmur, atrial septal defect, patent ductus arteriosus, tricuspid stenosis, tricuspid atresia, perimembranous ventricular septal defect, VSD, hypoplastic left ventricle, hypoplastic LV, respiratory distress, exercise intolerance

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Contributor Information and Disclosures

Author

M Silvana Horenstein, MD, Consultant, Pediatric and Fetal Cardiac Diagnostic, Diagnostico Gineco-Obstetrico, PC; Associate Medical Director, Legacy Department, Best Doctors, Inc
M Silvana Horenstein, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Medical Association
Disclosure: Nothing to disclose.

Coauthor(s)

Michael A Portman, MD, Research Director, Department of Pediatrics, Division of Cardiology, Associate Professor, Childrens' Hospital
Michael A Portman, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Physiological Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Paul M Seib, MD, Associate Professor of Pediatrics, University of Arkansas for Medical Sciences; Medical Director, Cardiac Catheterization Laboratory, Co-Medical Director, Cardiovascular Intensive Care Unit, Arkansas Children's Hospital
Paul M Seib, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Arkansas Medical Society, International Society for Heart and Lung Transplantation, and Society for Cardiac Angiography and Interventions
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

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.

CME Editor

Gilbert Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College
Gilbert 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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