Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Endocardial Cushion Defects Clinical Presentation

  • Author: Mary C Mancini, MD, PhD, MMM; Chief Editor: Park W Willis IV, MD  more...
 
Updated: Sep 15, 2014
 

History

An infant may be relatively asymptomatic. In severe cases, patients have a history of poor feeding, chronic upper respiratory tract infections, pneumonia, and poor growth. The mother may notice difficulty with crying, frequent pauses during feeding, and nasal flaring. As the child grows older, the more common manifestations of CHF may develop, including aversion to activity and play, easy fatigability, dyspnea, and edema.

Next

Physical

See the list below:

  • Partial defects present with the physical findings common to atrial septal defects.
    • The second heart sound is widely split without respiratory variations.
    • A systolic ejection murmur may be heart at the upper left sternal border.
    • A low-pitched early diastolic rumble may be heart at the lower left sternal border and is related to increased tricuspid valve flow.
    • A murmur of mitral insufficiency may or may not be present.
  • Additional findings in complete endocardial cushion defects relate to the ventricular septal defect and valvular insufficiency.
    • Poor physical development, hyperinflated thorax, bulging precordium, Harrison grooves, mild or intermittent cyanosis, and stigmata of Down syndrome (eg, oblique palpebral fissures, large protuberant tongue, short and broad hands, simian crease, inner epicanthic skin fold)
    • Arterial and jugular venous pulse - Water hammer pulse, dominant v wave in the jugular venous pulse
    • Precordial movement and palpation - Systolic thrill, palpable impulse in the second and third intercostal space representing a dilated pulmonary artery, prominent heave at the left sternal border
    • Auscultation
      • A single first heart sound is heard, which may be a relatively soft fixed splitting of the second heart sound.
      • A systolic murmur of a ventricular septal defect can be heard as well as the systolic murmur of mitral insufficiency.
      • Pulmonary hypertension is associated with a loud pulmonic component of the second heart sound.
Previous
Next

Causes

See the list below:

  • Genetics
    • The characteristic pattern of the malformation has been attributed to trisomy 21 and Down syndrome in some cases. Some evidence exists that a critical region of chromosome band 21q22 may contribute particularly to the cardiac malformation in this syndrome.
    • Other chromosomal abnormalities also can result in AV septal defects, in particular, deletion of 8p, partial 10q monosomy, partial 13q monosomy, ring 22 14 q+, and 1p+3p-.
    • In most cases of significant chromosomal aberration, AV septal defects are associated with other noncardiac congenital defects. However, isolated AV septal defects can be transmitted in families as an autosomal dominant trait.
    • Linkage analyses have suggested a locus for autosomal dominant AV septal defects on chromosome 1p but no specific gene defect has yet been identified.
  • Growth factor aberrations: In the developing fetus, cardiac tissue formation is dependent upon appropriate growth factor stimulation including transforming growth factor beta and platelet-derived growth factor. Alterations in the concentration or efficacy of these factors during embryogenesis can contribute to the cardiac malformations.
Previous
 
 
Contributor Information and Disclosures
Author

Mary C Mancini, MD, PhD, MMM Professor and Chief of Cardiothoracic Surgery, Department of Surgery, Louisiana State University School of Medicine in Shreveport

Mary C Mancini, MD, PhD, MMM is a member of the following medical societies: American Association for Thoracic Surgery, American College of Surgeons, American Surgical Association, Society of Thoracic Surgeons, Phi Beta Kappa

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, Society for Cardiovascular Angiography and Interventions, American College of Physicians, American Heart Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Frank M Sheridan, MD 

Frank M Sheridan, MD is a member of the following medical societies: American College of Cardiology, American Heart Association, Society for Cardiovascular 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.

Additional Contributors

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.

References
  1. Person AD, Klewer SE, Runyan RB. Cell biology of cardiac cushion development. Int Rev Cytol. 2005. 243:287-335. [Medline].

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

  3. Marelli AJ, Ionescu-Ittu R, Mackie AS, Guo L, Dendukuri N, Kaouache M. Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010. Circulation. 2014 Aug 26. 130(9):749-56. [Medline].

  4. [Guideline] Marino BS, Lipkin PH, Newburger JW, Peacock G, Gerdes M, Gaynor JW, et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation. 2012 Aug 28. 126(9):1143-72. [Medline].

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

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

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

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

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

  10. Hanley FL, Fenton KN, Jonas RA, et al. Surgical repair of complete atrioventricular canal defects in infancy. Twenty-year trends. J Thorac Cardiovasc Surg. 1993 Sep. 106(3):387-94; discussion 394-7. [Medline].

  11. Prêtre R, Dave H, Kadner A, Bettex D, Turina MI. Direct closure of the septum primum in atrioventricular canal defects. J Thorac Cardiovasc Surg. 2004 Jun. 127(6):1678-81. [Medline].

  12. Silverman N, Levitsky S, Fisher E, et al. Efficacy of pulmonary artery banding in infants with complete atrioventricular canal. Circulation. 1983 Sep. 68(3 Pt 2):II148-53. [Medline].

  13. Studer M, Blackstone EH, Kirklin JW, et al. Determinants of early and late results of repair of atrioventricular septal (canal) defects. J Thorac Cardiovasc Surg. 1982 Oct. 84(4):523-42. [Medline].

Previous
Next
 
Anatomy of the endocardial cushion defect (ie, complete form); note the common atrioventricular valve straddling the atrial septal and ventricular septal defects.
Repair of the endocardial cushion defect. The patch is covering the ostium primum atrial septal defect.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.