eMedicine Specialties > Cardiology > Congenital Heart Disease in the Adult

Endocardial Cushion Defects: Differential Diagnoses & Workup

Author: Mary C Mancini, MD, PhD, Professor, Department of Surgery, Louisiana State University Health Sciences Center
Coauthor(s): Henry G Hanley, MD, Chief of Cardiology Section, Freedman Memorial Cardiology; Professor, Department of Medicine, Louisiana State University Health Sciences Center
Contributor Information and Disclosures

Updated: Oct 16, 2008

Differential Diagnoses

Atrial Septal Defect
Mitral Regurgitation
Ventricular Septal Defect

Workup

Laboratory Studies

  • CBC count: Blood tests determine the presence of polycythemia in a potentially cyanotic condition.
  • Prothrombin time/activated partial thromboplastin time (PT/aPTT): In children with cyanotic heart disease, the coagulation profile may be abnormal because of associated polycythemia.
  • Electrolytes: This test detects any abnormalities incurred with treatment of CHF.

Imaging Studies

  • Chest radiography
    • This test is a good general screening that shows cardiac enlargement, particularly of the right atrium and ventricle.
    • The main pulmonary artery usually is prominent with increased pulmonary vascular markings. After pulmonary hypertension develops, a reduction in pulmonary vascular markings is observed.
  • Echocardiography
    • M-mode shows diastolic movement of the mitral valve with enlarged right ventricle and paradoxical motion of the interventricular septum.
    • Two-dimensional echocardiography is highly reliable in identification of septal defects. Echocardiography identifies the absence of the interventricular septum. Findings may include right ventricular dilatation and paradoxical motion of the interventricular septum. The extent of septal defects as well as the left-to-right shunting and degree of valvular insufficiency can be determined as well as an estimate of pulmonary artery pressure. Lack of displacement of the left and right AV valves is a characteristic finding in this condition. Prolonged diastolic contact between the anterior mitral leaflet and the interventricular septum also may be noted. Associated defects that may require attention also can be detected.
    • Abnormalities in the AV valves can be identified reliably. Transesophageal echocardiography clearly identifies AV valve morphology.3,4,5
  • MRI: This test readily visualizes the deficiency in the ventricular septum as well as AV valve morphology.6,7
  • Cardiac catheterization: This test is indicated when clinically significant questions remain unanswered after a comprehensive noninvasive evaluation. If other lesions are suspected or if operative planning cannot be performed adequately after noninvasive testing, then catheterization should be undertaken. Left ventricular angiography in the frontal plane shows an elongated left ventricular outflow tract, called a "gooseneck deformity," which is characteristic of this condition. Catheterization should involve quantitation of the shunts and valvular insufficiency and calculation of pulmonary vascular resistance. Aortography may be performed to determine whether a patent ductus arteriosus is present.

Other Tests

  • Electrocardiography
    • The typical ECG in patients with partial AV septal defects shows first-degree AV block and left axis deviation (because of late left anterior fascicular depolarization). Patients with right ventricular dilatation usually have partial or complete right bundle-branch block. Complete AV block and atrial fibrillation commonly occur in older patients. See Medscape's Atrial Fibrillation Resource Center.
    • A prolonged PR interval accompanied by biventricular or left ventricular hypertrophy also may be seen.

More on Endocardial Cushion Defects

Overview: Endocardial Cushion Defects
Differential Diagnoses & Workup: Endocardial Cushion Defects
Treatment & Medication: Endocardial Cushion Defects
Follow-up: Endocardial Cushion Defects
Multimedia: Endocardial Cushion Defects
References
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References

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  2. Cooper RS. Endocardial cushion defects: embryology, anatomy and pathophysiology. Adv Cardiol. 2004;41:118-26. [Medline].

  3. Tardif JC, Schwartz SL, Vannan MA, et al. Clinical usefulness of multiplane transesophageal echocardiography: comparison to biplanar imaging. Am Heart J. Jul 1994;128(1):156-66. [Medline].

  4. Weyman AE, Wann LS, Caldwell RL, et al. Negative contrast echocardiography: a new method for detecting left-to-right shunts. Circulation. Mar 1979;59(3):498-505. [Medline].

  5. Williams RG, Rudd M. Echocardiographic features of endocardial cushion defects. Circulation. Mar 1974;49(3):418-22. [Medline].

  6. Holmvang G, Palacios IF, Vlahakes GJ, et al. Imaging and sizing of atrial septal defects by magnetic resonance. Circulation. Dec 15 1995;92(12):3473-80. [Medline].

  7. Jacobstein MD, Fletcher BD, Goldstein S, Riemenschneider TA. Evaluation of atrioventricular septal defect by magnetic resonance imaging. Am J Cardiol. Apr 15 1985;55(9):1158-61. [Medline].

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  17. Fisher EA, Doshi M, DuBrow IW, et al. Effect of palliative and corrective surgery on ventricular volumes in complete atrioventricular canal. Pediatr Cardiol. Jul-Sep 1984;5(3):159-65. [Medline].

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Further Reading

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Keywords

endocardial cushion defects, atrioventricular septal defects, atrioventricular canal defects, AV septal defects, canalis atrioventricularis communis, persistent atrioventricular ostium, abnormal development of endocardial cushions, heart failure, pulmonary vascular disease, congestive heart failure, CHF, ostium primum atrial septal defect, minimal insufficiency of the left AV valve, atrial arrhythmia, trisomy 21, Down syndrome

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Contributor Information and Disclosures

Author

Mary C Mancini, MD, PhD, Professor, Department of Surgery, Louisiana State University Health Sciences Center
Mary C Mancini, MD, PhD is a member of the following medical societies: American Heart Association, American Medical Association, American Thoracic Society, Association for Academic Surgery, Association for Surgical Education, International College of Surgeons, International Society for Heart and Lung Transplantation, New York Academy of Sciences, Phi Beta Kappa, and Southern Thoracic Surgical Association
Disclosure: Nothing to disclose.

Coauthor(s)

Henry G Hanley, MD, Chief of Cardiology Section, Freedman Memorial Cardiology; Professor, Department of Medicine, Louisiana State University Health Sciences Center
Henry G Hanley, MD is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Heart Association, and Society of Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

Medical Editor

Park W Willis IV, MD, Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine
Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Frank M Sheridan, MD, Cardiology, Providence Everett Medical Center
Frank M Sheridan, MD is a member of the following medical societies: American College of Cardiology, American Heart Association, and Society for Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

CME Editor

Amer Suleman, MD, Consultant in Electrophysiology and Cardiovascular Medicine, Department of Internal Medicine, Division of Cardiology, Medical City Dallas Hospital
Amer Suleman, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Institute of Stress, American Society of Hypertension, Federation of American Societies for Experimental Biology, Royal Society of Medicine, and Society of Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

Chief Editor

Park W Willis IV, MD, Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine
Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography
Disclosure: Nothing to disclose.

 
 
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