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Pediatric Partial and Intermediate Atrioventricular Septal Defects Differential Diagnoses

  • Author: M Silvana Horenstein, MD; Chief Editor: P Syamasundar Rao, MD  more...
 
Updated: Mar 27, 2014
 
 

Diagnostic Considerations

Important considerations

Avoid delays in the diagnosis of these defects as they may lead to morbidity and mortality.

Special concerns

Seek genetic counseling for possible risk factors, especially in families with congenital heart disease (CHD), must be sought.

Defects of the extracellular matrix have been associated with a higher incidence of extracardiac anomalies, such as gastrointestinal (Hirschsprung disease, intestinal obstruction, annular pancreas, imperforate anus, biliary atresia) and facial (facial cleft).

In patients with CHARGE association (colobomata, heart defects [in 50%], choanal atresia, retardation of growth or development, genital hypoplasia, ear anomalies), atrioventricular septal defect (AVSD) may be seen, as well as other CHDs.

Patients with Ellis–van Creveld syndrome may have AVSD or a common atrium.

Other problems to be considered

When evaluating patients with suspected partial and intermediate AVSDs, also consider the following conditions:

  • Cleft mitral valve
  • Common atrium (usually associated with complex CHD)

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

M Silvana Horenstein, MD Assistant Professor, Department of Pediatrics, University of Texas Medical School at Houston; Medical Doctor Consultant, 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, American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Michael A Portman, MD, MD Professor, Department of Pediatrics, University of Washington School of Medicine; Director of Research, Division of Cardiology, Seattle Children's Hospital; Attending Physician, Seattle Children's Heart Center; Attending Physician, Cardiology Clinic, Providence Everett Medical Center

Michael A Portman, MD, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Physiological Society, Society for Pediatric Research

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.

Alvin J Chin, MD Emeritus Professor of Pediatrics, 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, Society for Developmental Biology, American Heart Association

Disclosure: Nothing to disclose.

Chief Editor

P Syamasundar Rao, MD Professor of Pediatrics and Medicine, Division of Cardiology, Emeritus Chief of Pediatric Cardiology, University of Texas Medical School at Houston and Children's Memorial Hermann Hospital

P Syamasundar Rao, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, American College of Cardiology, American Heart Association, Society for Cardiovascular Angiography and Interventions, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

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, Society for Cardiovascular Angiography and Interventions

Disclosure: Nothing to disclose.

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Partial atrioventricular septal defect (AVSD): The mitral and tricuspid annuli are separate. The cleft in the mitral leaflet is in the anterior position. This type of anatomy is usually associated with a primum atrial septal defect (ASD). Partial AVSD is more common than intermediate AVSD.
Intermediate atrioventricular septal defect (AVSD): A single valve annulus is present. The anterior and posterior bridging leaflets are fused (whereas in complete AVSD the anterior and posterior bridging leaflets are not fused). Therefore, the atrioventricular valve has a tricuspid and a mitral component. Intermediate AVSD is the least common type of AVSD.
Echocardiogram of the apical 4-chamber view demonstrating a partial atrioventricular septal defect (AVSD). Chambers are denoted by RA (right atrium), RV (right ventricle), and LV (left ventricle).
Echocardiogram with subcostal view demonstrates an atrioventricular septal defect (AVSD). A portion of the ostium secundum atrial septum is also missing, just superior to the ostium primum defect.
Color Doppler demonstrates left-to-right shunting through the partial atrioventricular septal defect (AVSD) shown in the following images.
Left superior axis deviation in the frontal plane and rR' pattern in right precordial leads.
 
 
 
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