Prenatal pathogenesis of the transposition of great arteries

  • T. Pexieder
  • M. Pfizenmaier Rousseil
  • J. C. Prados-Frutos

Abstract

Transposition of the great arteries (TGA) is one of the most spectacular cardiovascular anomalies as far as the clinical picture, as well as its treatments are concerned.

Keywords

Alla Crest Rosen Dial Thalidomide 

Abbreviations used in figures and tables

Ao

Aorta

AoAA

Aortic arches anomalies

AoInt

Aortic interruption

AoSt

Aortic stenosis

AoV

Aortic vestibulum

APs

Aortico-pulmonary septum

AS

Aortic sac

ASD

Atrial septal defect

AVSD

Atrioventricular septal defect

CoA

Aortic coarctation

CS

Contruncal septum

CT

Contruncus

DOLV

Double outlet left ventricle

DORV

Double outlet right ventricle

ECD

Atrioventricular cushion defect

FII

Foramen interventriculare secundum

FIII

Foramen interventriculare tertium

gd

Gestation days

iAV

Inferior atrioventricular cushion

LH

Left-heart hypoplasy

LV

Left ventricle

PA

Pulmonary artery

PAAtr

Pulmonary artery atresia

PASt/PuSt

Pulmonary artery stenosis

PGA

Parallel position of great arteries

PR

Parietal conotruncal ridge

RV

Right ventricle

sAV

Superior atrioventricular cushion

SR

Septal conotruncal ridge

SV

Sinus venosus

TAC

Truncus arteriosus communis

TAPVR

Total anomalous pulmonary venous return

TGA

Transposition of great arteries

TOF

Tetralogy of Fallot

Tr

Tricuspid orifice or valve

V

Undetermined ventricle (in A-loop)

VSD

Ventricular septal defect

N.B.

SEM micrographs of normal mouse embryonic hearts originate from the work described in [61].

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Anderson RH, Wilkinson J, Arnold R, Lubkiewitz K (1974) Morphogenesis of bulboventricu-lar malformations. Br Heart J 36:242–256PubMedCrossRefGoogle Scholar
  2. 2.
    Angelini P, Leachman RD (1974) Trunco-conal septal defects. An anatomic and embryologie discussion of common truncus and related malformations. Eur J Cardiol 2:11–22PubMedGoogle Scholar
  3. 3.
    Attie F, Kuri Alfaro J, Munoz Castellanos L, Arteaga M, Castro Bermudez A, Fernandez de la Vega P (1979) A study of the embryology of trunco-conal malformations. Arch Mal Coeur Vaiss 72:998–1005PubMedGoogle Scholar
  4. 4.
    Bankl H (1971) Mißbildungen des arteriellen Herzendes. Morphologie und Morphogenesis. Urban & Schwarzenberg, WienGoogle Scholar
  5. 5.
    Bankl H (1972) Die Transposition der Herzostien. Ein Versuch ihrer Erklärung. Wien Klin Wochenschr 84:324–330PubMedGoogle Scholar
  6. 6.
    Barrow MV, Taylor WJ (1971) The production of congenital heart defects with the use of anti-sera to rat kidney, placenta and lung homogenates. Am Heart J 82:199–206PubMedCrossRefGoogle Scholar
  7. 7.
    Braunhut SJ, Palomares M (1991) Modulation of endothelial cell shape and growth by retinoids. Micro vase Res 41:47–62CrossRefGoogle Scholar
  8. 8.
    Chuaqui B (1979) Doerr’s theory of morphogenesis of arterial transposition in light of recent research. Br Heart J 41:481–485PubMedCrossRefGoogle Scholar
  9. 9.
    Chuaqui B, Bersch W (1973) The formal genesis of the transposition of great arteries. Virch Arch [A] 358:11–34CrossRefGoogle Scholar
  10. 10.
    Conte G (1976) Ulteriore Contributo alia Conoscenza dell’ontogenesi della “Transposizione compléta délie grosse arterie del cuore” (A further contribution to the ontogenesis of “Complete Transposition” of the great arteries) Atti della Societa Italiana di Anatomia: XXXIII Convegno Nazionale in Catania, 22–25 settembreGoogle Scholar
  11. 11.
    Conte G, Arrigioni P (1966) Precisazioni Embriologiche su Due Alterazioni Congenite di Prima Formazione del Cuore: Aorta a Cavalière e Transposizione Compléta dei Grossi Vasi. Estratto da: Atti del XXVII Cong, délia Soc. Ital. di Cardiologia. Sirmione 2–5 Giugno. Vol II. II Pensiere Scientifico, ed. RomaGoogle Scholar
  12. 12.
    Davis LA, Sadler TW (1980) Effects of vitamin A on development of endocardial cushions. Anat Rec 196:42A–43AGoogle Scholar
  13. 13.
    Dolle P, Ruberte E, Leroy P, Morriss-Kay G, Chambon LP (1990) Retinoic acid receptors and cellular retinoid binding proteins: 1. A systematic study of their differential pattern of transcription during mouse organogenesis. Development 110:1133–1151PubMedGoogle Scholar
  14. 14.
    Ferencz C, Rubin JD, McCarter RJ, Boughman JA, Wilson PD, Brenner JI, Neill CA, Perry LW, Hepner SI, Downing JW (1987) Cardiac and noncardiac malformations: observations in a population-based study. Teratology 35:367–378PubMedCrossRefGoogle Scholar
  15. 15.
    Fox MH, Goss CM (1956) Experimental production of a syndrome of congenital cardiovascular defects in rats. Anat Rec 124:189–207PubMedCrossRefGoogle Scholar
  16. 16.
    Fraser FC, Hunter ADW (1975) Etiologic relations among categories of congenital heart malformations. Am J Cardiol 36:793–796PubMedCrossRefGoogle Scholar
  17. 17.
    Hagler DJ, Tajik AI, Seward JB, Mair DD, Ritter DG (1980) Wide-angle two-dimensional echocardiographic profiles of conotruncal abnormalities. Mayo Clin Proc 55:73–82PubMedGoogle Scholar
  18. 18.
    Haring OM (1966) Cardiac malformations in the rat induced by maternal hypercapnia with hypoxia. Circ Res 19:544–551PubMedCrossRefGoogle Scholar
  19. 19.
    Irie K, Ando M, Takao A (1990) All-Trans retinoic acid induced cardio-vascular malformations. In: Bockman DE, Kirby ML (eds) Embryonic Origins of Defective Heart Development. N Y Acad Sei, New York, pp 387–388Google Scholar
  20. 20.
    Ivemark BI (1955) Implications of agenesis of the spleen on the pathogenesis of cono-truncal anomalies in childhood: Analysis of heart malformations in splenic agenesis syndrome, with 14 new cases. Acta paediat (Uppsala) Suppl. 104, 44:1–110Google Scholar
  21. 21.
    Khera KS, Heggtveit MA (1974) Fetal cardiovascular defects induced by thalidomide in the cat. Teratology 9:A-24Google Scholar
  22. 22.
    Kirby ML, Waldo KL (1990) Role of neural crest in congenital heart disease. Circulation 82:332–340PubMedCrossRefGoogle Scholar
  23. 23.
    Koshar D (1989) personal communicationGoogle Scholar
  24. 24.
    Kousseff BG (1984) Sacral meningocele with conotruncal heart defects — A possible autosomal recessive trait. Pediatrics 74:385–398Google Scholar
  25. 25.
    Lev M, Saphir O (1945) A theory of transposition of the arterial trunks based on the phylogenetic and ontogenetic development of the heart. Arch Pathol 39:172–183Google Scholar
  26. 26.
    Losekoot TG, Anderson RH, Becker AE, Danielson GK, Soto B (1983) Congenitally corrected transposition. Churchill Livingstone, EdinburghGoogle Scholar
  27. 27.
    Markwald RR, Mjaatvedt CH, Krug EL, Sinning AR (1990) Inductive interactions in heart development: Role of cardiac adhérons in cushion tissue formation. In: Bockman DE, Kirby ML (eds) Embryonic Origins of Defective Heart Development. N Y Acad Sei, New York, pp 13–25Google Scholar
  28. 28.
    Miller PD, Telford IR, Haas GR (1971) Effect of hyperbaric oxygen on cardiogenesis in the rat. Biol Neonate 17:44–52PubMedCrossRefGoogle Scholar
  29. 29.
    Miller ME, Smith DW (1979) Conotruncal malformation complex — Examples of possible monogenic inheritance. Pediatrics 63:890–893PubMedGoogle Scholar
  30. 30.
    Monie IW, Takacs E, Warkany J (1966) Transposition of the great vessels and other cardiovascular abnormalities in rat fetuses induced by trypan blue. Anat Rec 156:175–190PubMedCrossRefGoogle Scholar
  31. 31.
    Moscoso G, Pexieder T (1990) Variations in microscopic anatomy and ultrastructure of human embryonic hearts subjected to three different modes of fixation. Path Res Pract 186:768–774PubMedCrossRefGoogle Scholar
  32. 32.
    Okamoto N (1976) Morphogenesis of the transposition of the great vessels. Cong Anom 16:129–145Google Scholar
  33. 33.
    Okamoto N, Satow Y, Hidaka N, Akimoto N, Miyabara S (1978) Morphogenesis of congenital heart anomaly — bulboventricular malformations. Jap Cire J 42:1105–1120CrossRefGoogle Scholar
  34. 34.
    Orts-Llorca F, Domenech Mateu JM, Puerta-Fonolla J (1983) Transposicion tipica compléta de los grandes arterias (TGA) en un embrion humano de 19 mm. Uno nueva teoria sobre su embriogenesis. Rev Espan Cardiol 36:81–88Google Scholar
  35. 35.
    Paige K, Palomares M, D’Amore PA, Braunhut SJ (1991) Retinol-induced modification of the extracellular matrix of endothelial cells: its role in growth control. In Vitro Cell Dev Biol 27A:151–157CrossRefGoogle Scholar
  36. 36.
    Patterson DF (1978) Lesion-specific genetic factors in canine congenital heart disease: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. In: Rosenquist GC, Bergsma D (eds) Morphogenesis and Malformation of the Cardiovascular System. Birth Defects: Orig. Art. Ser., Vol XIV N° 7. Alan R. Liss Inc (New York), pp 345–347Google Scholar
  37. 37.
    Pernkopf E, Wirtinger W (1935) Das Wesen der Transposition im Gebiete des Herzens, ein Versuch der Erklärung auf entwicklungsgeschichtlicher Grundlage. Virchows Arch 295:143–175CrossRefGoogle Scholar
  38. 38.
    Pexieder T (1981) Prenatal development of the endocardium: a review. Scanning Electron Microscopy 11:223–253Google Scholar
  39. 39.
    Pexieder T (1986) Standardized method for study of normal and abnormal cardiac development in chick, rat, mouse, dog and human embryos. Teratology 33:91CGoogle Scholar
  40. 40.
    Pexieder T (1981) Cellular abnormalities leading to congenital heart disease. In: Goodman M (ed) Paediatric Cardiology, vol. 4. Churchill Livingstone, Edinburgh, pp 24–32Google Scholar
  41. 41.
    Pexieder T, Bloch D, Beuret A (1989) Eurocat collaborative study on congenital heart disease. Eur J Epidemiol 5:254Google Scholar
  42. 42.
    Pexieder T, Pfizenmaier Rousseil M (1991) Pathogenesis of retinoic acid induced transposition of great arteries. Circulation 84:11–385Google Scholar
  43. 43.
    Pexieder T, Pfizenmaier Rousseil M, Prados Frutos JC (1990) Spectrum of cardiac and extracardiac anomalies induced by retinoic acid in rats. Teratology 41:584Google Scholar
  44. 44.
    Pexieder T, Vuillemin M, Alaili R, Veuthy S, Patterson DF, Scott WJ Jr. (1989) Experimental studies in the pathogenesis of conotruncal defects. In: Aranega A, Pexieder T (eds) Correlation between Experimental Cardiac Embryology and Teratology and Congenital Cardiac Defects. University of Granada, Granada, pp 37–92Google Scholar
  45. 45.
    Pohanka I, Vitek B (1972) Survey of embryology of the heart and the most important pathogenetic theories of great vessel transposition. Cesk Patol 17:8–16Google Scholar
  46. 46.
    Robertson J (1913) The comparative anatomy of the bulbus cordis with special reference to abnormal positions of the great vessel in the human heart. J Pathol Bact 18:191–210CrossRefGoogle Scholar
  47. 47.
    Ruberte E, Dolle P, Krust A, Zelent A, Morriss-Kay G, Chambon P (1990) Specific spatial and temporal distribution of retinoic acid receptor gamma transcripts during mouse embryogenesis. Development 108:213–222PubMedGoogle Scholar
  48. 48.
    Sanders SP, Bierman FZ, Williams RG (1982) Conotruncal malformations — diagnosis in infancy using subxiphoid 2-dimensional echocardiography. Am J Cardiol 50:1361–1367PubMedCrossRefGoogle Scholar
  49. 49.
    Shaner RF (1962) Comparative development of the bulbus and ventricles of the vertebrate heart with special reference to Spitzer’s theory of heart malformations. Anat Rec 142:519–529PubMedCrossRefGoogle Scholar
  50. 50.
    Shimizu T, Takao A, Ando M, Hirayama A (1984) Conotruncal anomaly face syndrome: its heterogeneity and association with thymus involution. In: Nora JJ, Takao A (eds) Congenital Heart Disease. Causes and Processes. Futura Publ. Co, Mount Kisco, N.Y., pp 29–42Google Scholar
  51. 51.
    Sonoda T, Ohdo S, Ohba KI, Okishima T, Hayakawa K (1991) Sodium valproate-inducedcardiovascular abnormalities in the Jcl:ICR mouse fetus. Cong Anom 31:89–94CrossRefGoogle Scholar
  52. 52.
    Steding G, Seidl W (1984) Zur Entwicklung der Transpositionen der großen Gefäße. Verh Anat Ges 78:263–264Google Scholar
  53. 53.
    Sukumar IP (1976) A new look at transposition of great arteries. J Ass Phys India 24:531–533Google Scholar
  54. 54.
    Takao A, Ando M, Cho K, Kinouchi A, Murakami Y (1980) Etiologic categorization of common congenital disease. In: Van Praagh R, Takao A (eds) Etiology and Morphogenesis of Congenital Heart Disease. Futura Publ Co, Mount Kisco, N.Y., pp 253–269Google Scholar
  55. 55.
    Taylor IM, Agur A, Wiley MJ (1978) Retinoic acid-induced malformation of the heart. J Anat 127:646Google Scholar
  56. 56.
    Ueno T (1973) The association of sulpho-mucopolysaccharides with histogenesis of endocardial swellings (cushion tissues) in normal and abnormal developing rat heart. Med J Hiroshima Univ 21:619–644Google Scholar
  57. 57.
    Van Mierop LHS, Wiglesworth FW (1963) Pathogenesis of transposition complexes. Ill True transposition of the great vessels. Am J Cardiol 12:233–239CrossRefGoogle Scholar
  58. 58.
    Van Praagh R (1973) Transposition des gros vaisseaux: définition, historique et corrélation anatomo-radiologiques. Coeur 4:207–228Google Scholar
  59. 59.
    Vickers TH (1968) The cardiovascular malformations in the rabbit thalidomide embryopathy. Br Exp Pathol 49:149–196Google Scholar
  60. 60.
    Von Rokitansky C (1875) Die Defekte der Scheidewände des Herzens. Wilhelm Braumüller, WienGoogle Scholar
  61. 61.
    Vuillemin M, Pexieder T (1989) Normal stages of cardiac organogenesis in the mouse. II. Development of the internal relief of the heart. Am J Anat 184:114–128PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1992

Authors and Affiliations

  • T. Pexieder
    • 1
    • 2
  • M. Pfizenmaier Rousseil
    • 1
  • J. C. Prados-Frutos
    • 1
  1. 1.Institute of Histology and EmbryologyUniversity of LausanneSwitzerland
  2. 2.Institut d’Histologie et d’EmbryologieUniversité de LausanneLausanneSuisse

Personalised recommendations