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cardiac malformations

Tuesday 13 April 2004

Types (Exemples)

- septal malformations (atrioventricular septal defects)

  • malformations of the atrioventricular septum
    • partial atrioventricular septal defect
    • complete atrioventricular septal defect (complete AV canal)

- malformations of the conus and truncus (conotruncal malformations)

  • transposition of great vessels
    • complete transposition (D-transposition )
    • corrected transposition (L-transposition )

- malformations of the ventricular inflow tracts

  • mitral valve malformations
    • congenital mitral stenosis and insufficiency
      • mitral valve dysplasia
      • mitral valve hypoplasia
      • supramitral ring
      • parachute deformity
      • double orifice mitral valve
    • mitral atresia
  • univentricular atrioventricular connection

- malformations of the ventricular outflow tracts

  • aortic outflow tract and valve malformations
  • hypoplastic left-heart syndrome

- malformations of the aortic arch system

- cardiac situs anomaly


- The International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease (IWGMCNPCHD)


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- Gelb BD. Genetic basis of congenital heart disease. Curr Opin Cardiol. 2004 Mar;19(2):110-5. PMID: 15075735

- Hatcher CJ, Diman NY, McDermott DA, Basson CT. Transcription factor cascades in congenital heart malformation. Trends Mol Med. 2003 Dec;9(12):512-5. PMID: 14659463

- Devine WA, Debich DE, Anderson RH. Dissection of congenitally malformed hearts, with comments on the value of sequential segmental analysis. Pediatr Pathol. 1991 Mar-Apr;11(2):235-59. PMID: 2052507