Abstract
Human congenital cardiac malformations are traditionally classified by their anatomic characteristics. Ventricular septal defect, pulmonary valve stenosis, and atrial septal defect are all described according to the location of the abnormalities in the heart. While such a listing is important for physicians and surgeons who treat children with these malformations, a solely anatomic classification may obscure physiologic relationships important for identification of pathogenesis or etiology.
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References
Fraser FC, Hunter ADW: Etiologic relations among categories of congenital heart malformations. Am J Cardiol 36:793–795, 1975.
Taussig HB: World survey of the common cardiac malformations: Developmental error or genetic variant? Am J Cardiol 50:544–559, 1982.
VanMierop LHS, Gessner IH: Pathogenic mechanisms in congenital cardiovascular malformations. Prog Cardiovasc Dis 15:67–85,1972.
Jaffee OC: Cardiac development with special reference to congenital heart disease. Dayton, OH, University of Dayton Press, 1968.
Rosenquist GC, Bergsma D: Morphogenesis and malformation of the cardiovascular system. Birth Defects 14:1–455, 1978.
Van Praagh R, Takao A: Etiology and morphogenesis of congenital heart disease. Mt. Kisco, NY, Futura Publishing Co., 1980.
Nora JJ, Takao A: Congenital heart disease; Causes and processes. Mt. Kisco, NY, Futura Publishing Co., 1984.
DeHaan RL: Morphogenesis of the vertebrate heart. In: Organogenesis, DeHaan R, Ursprung H (eds), New York, Holt, Rinehart and Winston, 1965, p 377–419.
Pexieder T: Mechanisms of cardiac morphogenesis and teratogenesis. New York, Raven Press, 1981.
Grohmann D: „Mitotische Wachstumintesitat des Embryonalen und Fetalen Hunchenherzens und ihre Bedeutung fur Entstehung Von Herzmissbildung.“ Z Zellforsch 55:104–122, 1961. (Cited by DeHaan 8).
Rychter Z: Analysis of relations between aortic arches and aorticopulmonary septation. Birth Defects 14:443–448, 1978.
de la Cruz MV, Gomez CS, Arteaga NM, Arguello C: Experimental study of the development of the truncus and the conus in the chick embryo. J Anat 123:661–686, 1977.
Thompson RD, Fitzharris TP: Morphogenesis of the truncus arteriosus of the chick embryo heart: The formation and migration of mesenchymal tissue. Am J Anat 164:545–556, 1979.
Okamoto N, Satow Y, Hidaka N, Akimoto N: Anomalous development of the conotruncus in neutron-irradiated rats. In: Etiology and morphogenesis of congenital heart disease, VanPraagh R, Takao A (eds), Mt. Kisco, NY, Futura Publishing Co., 1980, p 195–214.
Clark EB, Hu N, Rosenquist GC: The effect of conotruncal constriction on aortic mitral relationship in stages 18, 21 and 24 chick embryo. Am J Cardiol 53:324–327, 1984.
Gessner IH, VanMierop LHS: Experimental production of cardiac defects. The spectrum of dextroposition of the aorta. Am J Cardiol 25:272–280, 1970.
Kirby ML, Gale TF, Stewart DE: Neural crest cells contribute to normal aorticopulmonary septation. Science 220:1059–1061, 1983.
Rosenquist GC, Clark EB, Sweeney LJ, McAllister HA: The normal spectrum of mitral and aortic valve discontinuity. Circulation 54:298–301, 1976.
VanMierop LHS, Alley RD, Kausel HW, Stranahan A: Pathogenesis of transposition complexes: Embryology of the ventricles and great arteries. Am J Cardiol 12:216–225, 1963.
VanMierop LHS, Kutsche LM: Interruption of the aortic arch and coarctation of the aorta: Pathogenetic relationships. Am J Cardiol 54:829–834, 1984.
Kutsche LM, VanMierop LHS: Pulmonary atresia with and without ventricular septal defect: A different etiology and pathogenesis for the atresia in the 2 types. Am J Cardiol 51:932–941, 1983.
Greenwood RD, Rosenthal A, Sommer A, Wolff G, Craenen J: Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar Syndrome).J Pediatr 85:816–818, 1974.
Ardinger HH, Clark EB, Hanson JW: Cardiovascular anomalies in craniofacial disorders: Pathogenetic and epidemiologic considerations. Proc Greenwood Genetic Center 4:81, 1985.
Pierpont MEM, Moller JH, Gorlin RJ, Edwards JE: Congenital cardiac, pulmonary and vascular malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 2:297–302, 1982.
Freedom RM, Rosen FS, Nadas AS: Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch. Circulation 46:165–172, 1972.
Moerman P, Goddeeris P, Lauwerijns J, Vanderhauwaert LG: Cardiovascular malformations in DiGeorge syndrome. Br Heart J 44:452–459, 1980.
Hittner NM, Hirsch NJ, Kreh GM, Rudolph AJ: Colobomatous microphthalmia heart disease, hearing loss and mental retardation — A syndrome. J Pediatr Ophthalmol Strabismus 16:122–128, 1981.
Siebert JR, Graham JM Jr, McDonald C: Pathologic features of “CHARGE” Association: Support for involvement of neural crest. Teratology 31:331–336, 1985.
Shprintzen RJ, Goldberg RB, Young D, Wolford L: The velo-cardio-facial syndrome: A clinical and genetic analysis. Pediatrics 67:167–172, 1981.
Young D, Shprintzen RJ, Goldberg RB: Cardiac malformations in the velocardiofacial syndrome. Am J Cardiol 46:643–648, 1980.
Lammer EJ, Chen DT, Hoar R, Curry C, Benke PJ, Fenhoff PM, Grix A, Sun S, Braun JT, Lott I, Richard J, Agnish HD: Retonoic acid embryopathy: A new human teratogen. N Engl J Med 313:837–841, 1985.
McBride WG: Thalidomide embryopathy. Teratology 16:79–82, 1978.
McCredie J: Embryonic neuropathy a hypothesis of neural crest injury as the pathogenesis of congenital malformations. Med J Aust 1:159–163, 1974.
McCredie J: Neural crest defect: A neuralanatomic basis for classification of multiple malformations related to phocomelia. J Neurol Sci 28:373–387, 1976.
Clark EB, Hu N: Developmental hemodynamic changes in the chick embryo from stage 18 to 27. Circ Res 51:810–815, 1982.
Clark EB: Functional aspects of cardiac development. In: Growth of the heart in health and disease, Zak R (ed), New York, Raven Press, 1983, p 79–101.
Clark EB: Hemodynamic control of the chick embryo cardiovascular system. In: Congenital heart disease: Causes and processes, Nora JJ, Takao A (eds), Mt. Kisco, NY, Futura Publishing Co., 1984, p 377–386.
Lev M, Vass A: Spitzer’s architecture of normal and malformed hearts. Springfield, IL, Charles C. Thomas, 1951.
Bremer JL: The presence and influence of two spiral streams in the heart of the chick embryo. Am J Anat 49:409–440, 1932.
Goerttler K: Glass model experiments of embryonic human hearts. In: Cardiac development with special reference to congenital heart disease, Jaffee DC (ed), Dayton, OH, University of Dayton Press, 1968.
DeVries PA, Saunders JB deCM: Development of the ventricles and spiral outflow tract in the human heart. Carnegie Inst Contrib Embryol 37:87–114, 1962.
Grant RP: The embryology of the ventricular flow pathways in man. Circulation 25:756–779, 1962.
Manasek FJ, Monroe RG: Early cardiac morphogenesis is independent of function. Dev Biol 27:584–588, 1972.
Yoshida H, Manasek F, Arcilla RA: Intracardiac flow patterns in early embryonic life. Circ Res 53:363–371, 1983.
Pexieder T: Blood pressure in the third and fourth aortic arches and morphologic influence of laminar blood streams in the development of the vascular system of the chick embryo. Folia Morphol (Praha) 17:273–290, 1969.
Rychter Z: Experimental morphology of the aortic arches and the heart loop in chick embryo. Adv Morphogenesis 2:333–371, 1962.
Harh JY, Paul MH, Gallen WJ, Friedberg DZ, Kaplan S: Experimental production of hypoplastic left heart syndrome in the chick embryo. Am J Cardiol 31:51–56, 1973.
Sweeney LJ: Morphometric Analysis of an Experimental Model of Left Heart Hypoplasia in the Chick. Ph.D. Thesis. Omaha, Nebraska, University of Nebraska Medical Center, 1981.
Hutchins GM: Coarctation of the aorta explained as a branch — point of the ductus arteriosus. Am J Pathol 62:203–207, 1971.
Rudolph AM, Heymann MA, Spitznas U: Hemodynamic considerations in the development of narrowing of the aorta. Am J Cardiol 30:514–524, 1972.
VanMierop LHS, Kutsche LM: Interruption of the aortic arch and coarctation of the aorta: Pathogenic relationships. Am J Cardiol 54:829–834, 1984.
Moulaert AJ, Bruins CC, Oppenheimer-Dekker A: Anomalies of the aortic arch and ventricular septal defects. Circulation 53:1011–1015, 1976.
Atkins DL, Clark EB, Marvin WJ: Foramen ovale/atrial septum ratio: A marker of transatrial blood flow. Circulation 66:281–283, 1982.
Clark EB: Neck web and congenital heart defects. A pathogenic assocition in 45 X-O Turner syndrome? Teratology 29:355–361, 1984.
Pexieder T: Cell death in the morphogenesis and teratogenesis of the heart. Adv Anat Embryol Cell Biol 51:1–100, 1975.
Markwald RR: The role of extracellular matrix in cardiogenesis. Tex Rep Biol Med 39:249–333, 1979.
Manasek FJ: The extracellular matrix of the early embryonic heart. In: Development and physiological correlates of cardiac muscle, Lieberman M, Sano T (eds), New York, Raven Press, 1975, p 1–20.
Kinsella MG, Fitzharris TP: Origin of cushion tissue in the developing chick embryo. Cinematographic recordings of in-situ formation. Science 207:1359–1360, 1980.
Markwald RR, Fitzharris TP, Manasek FJ: Structural development of endocardial cushions. Am J Anat 148:85–120, 1977.
Wright TC, Orkin RW, Destrempes M, Kurnit DM: Increased adhesiveness of Down syndrome fetal fibroblasts in-vitro. Proc Natl Acad Sci 81:2426–2430, 1984.
Rosenquist GC, Sweeney LJ, Amsel J, McAllister HA: Enlargement of the membranous ventricular septum: An internal stigma of Down’s syndrome. J Pediatr 85:490–493, 1974.
Becker AE, Anderson RH: Pathology of congenital heart disease. Boston, Butterworths, 1981.
Sutherland GR, Goodman MJ, Smallhorn JF, Guiterras P, Anderson RH, Hunter S: Ventricular septal defects: Two dimensional echocardiographic and morphological correlations. Br Heart J 47:316–328, 1982.
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© 1987 Martinus Nijhoff Publishing, Boston
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Clark, E.B. (1987). Mechanisms in the Pathogenesis of Congenital Cardiac Malformations. In: Pierpont, M.E.M., Moller, J.H. (eds) The Genetics of Cardiovascular Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2305-1_1
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DOI: https://doi.org/10.1007/978-1-4613-2305-1_1
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