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Humangenetische Aspekte der angeborenen Fehlbildungen des Herzens und der großen Gefäße

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Pathologische Anatomie des Herzens und seiner Hüllen

Part of the book series: Spezielle pathologische Anatomie ((3009,volume 22 / 1))

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Zusammenfassung

Der enge anatomische und entwicklungsgeschichtliche Zusammenhang der Fehlbildungen des Herzens und der herznahen Abschnitte der großen Gefäße macht es sinnvoll, diese gemeinsam zu behandeln. Sie begegnen dem Humangenetiker vor allem unter dem Aspekt der genetischen Beratung der Eltern oder der Patienten selbst. Die wichtigsten Fragen betreffen das Risiko der Wiederholung bei weiteren Nachkommen der Eltern eines Kindes mit einem angeborenen Herzfehler oder bei den Nachkommen eines Patienten mit einer solchen Fehlbildung. Die Beratung kann sich für die grobe Orientierung auf empirische Zahlen stützen, dieser Ansatz bleibt aber unbefriedigend, solange die Grundlagen der Entstehung solcher Fehlbildungen nicht aufgeklärt und verstanden werden. Das Verstehen der genetischen Grundlagen und eventueller exogener auslösender Faktoren ist auch die Voraussetzung für jeden Versuch, vorbeugend zu wirken.

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Literatur

  • Allan LD, Crawford DC, Chita SK, Anderson RH, Tynan MJ (1986) Familial recurrence of congenital heart disease in a prospective series of mothers referred for fetal echocardiography. Am J Cardiol 86:334–337

    Article  Google Scholar 

  • Allen LD, Cook A, Sullivan I, Sharland GK (1991) Hypoplastic left heart syndrome-effects of fetal echocardiography on birth prevalence. Lancet 337:959–961

    Article  Google Scholar 

  • Anderson RC (1976) Fetal and infant death, twinning and cardiac malformation in families of 2000 children with and without congenital heart disease. Am J Cardiol 38:218–224

    Article  PubMed  CAS  Google Scholar 

  • Anderson CE, Edmonds LD, Erickson JD (1978) Patent ductus arteriosus and ventricular septal defect. Trends in reported frequency. Am J Epidemiol 107:281–289

    PubMed  CAS  Google Scholar 

  • Beemer FA (1979) pers Mitt

    Google Scholar 

  • Borow KM, Karp R (1990) Atrial septal defect Lessons from the past, directions for the future. New Eng J Med 323:1698–1700

    Article  PubMed  CAS  Google Scholar 

  • Boughman JA, Berg KA, Astemborski JA, Clark EB, McCarter RJ, Rubin JD, Ferencz C (1987) Familial risks of congenital heart defect assessed in a population-based epidemiologic study. Am J Med Genet 26:839–849

    Article  PubMed  CAS  Google Scholar 

  • Brendt RL (1985) Editorial: Bendectin and interventricular septal defects. Teratology 32:317–318

    Article  Google Scholar 

  • Bruyère HJ, Kargas SA, Levy JM (1987) The causes and underlying developmental mechanisms of congenital cardiovascular malformations. Am J Med Genet (Suppl) 3:411–431

    Article  Google Scholar 

  • Burn J, Corney G (1984) Congenital heart defects and twinning. Acta Genet Med Gemellol 33:61–69

    PubMed  CAS  Google Scholar 

  • Campbell M (1961a) Twins and congenital heart disease. Acta Genet Med (Roma) 10:443

    CAS  Google Scholar 

  • Campbell M (1961b) Place of maternal rubella in the aetiology of congenital heart disease. Br Med J I:691

    Article  Google Scholar 

  • Campbell M (1965) Causes of malformations of the heart. Br Med J 2:895–904

    Article  PubMed  CAS  Google Scholar 

  • Carter CO (1965) The inheritance of common congenital malformations. In: Steinberg AG, Bean AG (eds) Progress in medical genetics. Grune &amp Stratton, New York, pp 4–59

    Google Scholar 

  • Chen S, D’Souza N (1990) Familial tetralogy of Fallot and Glaucoma. Am J Med Genet 37:40–41

    Article  PubMed  CAS  Google Scholar 

  • Chen S, Thompson MW, Rose V (1971) Endocardial fibroelastion: Family studies with special reference to counseling. J Pediatr 79:385–392

    Article  PubMed  CAS  Google Scholar 

  • Clark EB (1986) Mechanisms in the pathogenesis of congenital heart defects. In: Pierpont ME, Moller JM (eds) The genetics of cardiovascular disease. Martinus-Nijoff, Boston, pp 3–11

    Google Scholar 

  • Czeizel A, Tusnady G (1984) Aetiological studies of isolated common congenital abnormalities in Hungary. Akademiai Kiado, Budapest, pp 121–145

    Google Scholar 

  • Der Kaloustian VM, Ratl H, Malouf J, Hatem J, Slim M, Tomeh A, Khouri J, Kutayli F (1985) Tetralogy of Fallot with pulmonary atresia in siblings. Am J Med Genet 21: 119–122

    Article  Google Scholar 

  • Distefano G, Romeo MG, Grasso S, Mazzone D, Sciacca P, Mollica F (1987) Dextrocardia with and without situs viscerum inversus in two sibs. Am J Med Genet 27:929–934

    Article  PubMed  CAS  Google Scholar 

  • Editorial (1991) Folic acid and neural tube defects. Lancet 338:153–154

    Google Scholar 

  • Edwards JH (1960) The simulation of mendelism. Acta Genet (Basel) 10:63

    CAS  Google Scholar 

  • Edwards JH (1963) The genetic basis of common disease. Am J Med 34:627

    Article  Google Scholar 

  • Emerit I, Vernant P, Corone P, Grouchy J de (1967) Malformations extracardiaques associees à des cardiopathies congenitales. Acta Genet Med (Roma) 17:523

    Google Scholar 

  • Evans JA (1990) Aberrant bronchi and cardiovascular anomalies. Am J Med Genet 35: 46–54

    Article  PubMed  CAS  Google Scholar 

  • Falconer DS (1965) The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann Hum Genet Lond 29:51

    Article  Google Scholar 

  • Falconer DS (1967) The inheritance of liability to diseases with variable age of onset, with particular reference to diabetes mellitus. Ann Hum Genet (Lond) 31:1–20

    CAS  Google Scholar 

  • Farag TI, Teebi AS (1990) Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot. Am J Med Genet 35:516–518

    Article  PubMed  CAS  Google Scholar 

  • Ferencz C (1986) Offspring of fathers with cardiovascular malformations. Am Heart J 111:1212–1213

    Article  PubMed  CAS  Google Scholar 

  • Ferencz C, Matanoski GM, Wilson PD, Rubin JD, Neill CA, Gutberiet R (1980) Maternal hormone therapy and congenital heart disease. Teratology 21:225–239

    Article  PubMed  CAS  Google Scholar 

  • Ferencz C, Rubin JD, McCarter RJ, Brenner JI, Neill CA, Perry LW, Hepner SI, Downing JW (1985) Congenital heart disease. Prevalence at livebirth. Am J Epidemiol 121:31–36

    PubMed  CAS  Google Scholar 

  • Ferencz C, Boughman JA, Neill CA, Brenner JI, Perry LW (1989) Congenital cardiovascular malformations: questions on inheritance, Baltimore-Washington Infant Study Group. J Am Coll Cardiol 14:756–763

    Article  PubMed  CAS  Google Scholar 

  • Ferencz C, Rubin JD, McCarter RJ, Clark EB (1990) Maternal diabetes and cardiovascular malformations — predominance of double outlet right ventricle and truncus arteriosus. Teratology 41:319–326

    Article  PubMed  CAS  Google Scholar 

  • Ferencz C, Boughman JA, Rubin JD, Loffredo C (1991) Genetics of cardiovascular malformations: New ideas from a population-based study (Abstract). Proc 8th Intern Congr Hum Genet 49: No 2668

    Google Scholar 

  • Friedberg DZ (1974) Tetralogy of Fallot with right aortic arch in three successive generations. Am J Dis Child 127:877–878

    PubMed  CAS  Google Scholar 

  • Fuhrmann W (1961) Genetische und exogene Faktoren in der Ätiologie der angeborenen Angiokardiopathien. Habilitationsschrift, Freie Universität Berlin

    Google Scholar 

  • Fuhrmann W (1962a) Genetische und exogene Faktoren in der Ätiologie der angeborenen Angiokardiopathien. Fortschr Med 80:118–120

    Google Scholar 

  • Fuhrmann W (1962b) Genetische und peristatische Ursachen angeborener Angiokardiopathien. Ergeb Inn Med Kinderheilkd 18:47–115

    CAS  Google Scholar 

  • Fuhrmann W (1968a) Congenital Heart Disease in Sibships ascertained by affected Siblings. Humangenetik 6:1–12

    Article  CAS  Google Scholar 

  • Fuhrmann W (1968b) A family study in transposition of the great vessels and in tricuspid atresia. Humangenetik 6:148–157

    Article  CAS  Google Scholar 

  • Fuhrmann W (1972a) Fehlbildungen des Herzens und der großen Gefäße. In: Becker PE (Hrsg) Humangenetik. Thieme, Stuttgart, S 257–327

    Google Scholar 

  • Fuhrmann W (1972b) Befunde bei speziellen angeborenen Angiokardiopathien. In: Becker PE (Hrsg) Humangenetik. Thieme, Stuttgart, S 328–343

    Google Scholar 

  • Fuhrmann W (1974a) Die formale Genetik des Menschen. In: Vogel F (red von) Erbgefüge. Springer, Berlin Heidelberg New York (Handbuch der allgemeinen Pathologie, Bd IX, S147–259)

    Chapter  Google Scholar 

  • Fuhrmann W (1974b) Genetische Aspekte des Mißbildungsproblems. In: Vogel F (red von) Erbgefüge. Springer, Berlin Heidelberg New York (Handbuch der allgemeinen Pathologie, Bd IX, S 524–580)

    Google Scholar 

  • Fuhrmann W (1975) Führt die erfolgreiche operative Behandlung angeborener Herzfehler zu einer Zunahme solcher Fehlbildungen in kommenden Generationen? Mschr Kinderheilkd 123:368–371

    CAS  Google Scholar 

  • Gerlis LM (1985) Cardiac malformations in spontaneous abortions. Int J Cardiol 7:29–43

    Article  PubMed  CAS  Google Scholar 

  • Gev D, Roguin N, Freundlich E (1986) Consanguinity and congenital heart disease in the rural arab population in Northern Israel. Hum Hered 36:213–217

    Article  PubMed  CAS  Google Scholar 

  • Goerttler K (1963) Entwicklungsgeschichte des Herzens. In: Bargmann W, Doerr W (Hrsg) Das Herz des Menschen. Thieme, Stuttgart

    Google Scholar 

  • Grabitz RG, Joffres MR, Collins-Nakai RL (1988) Congenital heart disease; incidence in the first year of life. Am J Epidemiol 128:381–388

    PubMed  CAS  Google Scholar 

  • Gregg M (1941) Congenital cataracts following german measles in the mother. Trans Ophthal Soc Aust 3:35

    Google Scholar 

  • Grüneberg H (1951) The genetics of a tooth defect in the mouse. Proc Roy Soc B 138: 437–451

    Article  Google Scholar 

  • Grüneberg H (1952) Genetical studies on the skeleton of the mouse. J Genet 51:95

    Article  Google Scholar 

  • Hoffman JI (1990) Congenital heart disease: incidence and inheritance. Pediatr Clin North Am 37:25–43

    PubMed  CAS  Google Scholar 

  • Hoffman JIE (1968) Natural history of congenital heart disease. Problems in its assessment with special reference to ventricular septal defects. Circulation 37:97–125

    PubMed  CAS  Google Scholar 

  • Hoffman JIE, Christianson R (1978) Congenital heart disease in a cohort of 19502 births with long-term followup. Am J Cardiol 42:641–647

    Article  PubMed  CAS  Google Scholar 

  • Holmes LB, Rose V, Child AH (1972) Comment on hypoplastic left heart syndrome. In: Clinical delineation of birth defects XVI. Williams & Wilkins, Baltimore, pp 228–230

    Google Scholar 

  • Janerich DT, Dugan JM, Standfast SJ, Strite L (1977) Congenital heart diesease and prenatal exposure to exogenous sex hormones. Br Med J 1:1058–1060

    Article  PubMed  CAS  Google Scholar 

  • Jörgensen G (1970) Twin studies in congenital heart diseases. Acta Genet Med Gemellol 19:251–256

    PubMed  Google Scholar 

  • Jörgensen G, Beuren AJ (1971) Genetische Untersuchungen bei verschiedenen Typen angeborener Herzfehler. Monatsschr Kinderheilkd 119:417–427

    PubMed  Google Scholar 

  • Johansson DW, Sievers J (1967) Inheritance of atrial septal defect. Lancet I:1224

    Article  Google Scholar 

  • Jones MC, Waldman JD (1985) An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot. Am J Med Genet 22:135–141

    Article  PubMed  CAS  Google Scholar 

  • Kreipe U (1967) Mißbildungen innerer Organe bei Thalidomidembryopathie. Arch Kinderheilkd 176:33

    PubMed  CAS  Google Scholar 

  • Lamy M, Grouchy J de, Schweisguth O (1957) Genetic and nongenetic factors in the etiology of CHD: a study of 1188 cases. Am J Hum Genet 9:17

    PubMed  CAS  Google Scholar 

  • Landauer W (1953) Genetic and environmental factors in the teratogenic effects of boric acid on chicken embryos. Genetics 38:216

    PubMed  CAS  Google Scholar 

  • Landauer W (1954) On the chemical production of developmental abnormalities and of phenocopies in chicken embryos. J Cell Comp Physiol 43:261

    Article  CAS  Google Scholar 

  • Landtman B (1965) Epidemiological aspects of congenital heart disease. Acta Paed Scand 54:467

    Article  CAS  Google Scholar 

  • Lang MJ, Aughton DJ, Riggs TW, Milad MP, Biesecker LG (1991) Dizygotic twins concordant for truncus arteriosus. Clin Genet 39:75–79

    Article  PubMed  CAS  Google Scholar 

  • Layde PM, Erickson JD, Dooley K, Edmonds LD (1980) Is there an epidemic of ventricular septal defects in the U.S.A.? Lancet I:407–408

    Article  Google Scholar 

  • Layton WM (1978) Heart malformations in mice homozygous for a gene causing situs inversus. Birth Defects: Original Article Series XIV 7:277–293

    Google Scholar 

  • Lechat MF (ed) 1991) Eurocat Report 4: Surveillance of congenital anomalies 1980–1988. Eurocat Central Registry, Dept of Epidemiology, Catholic Univ, Brussels 80–94

    Google Scholar 

  • Lerner IM (1954) Genetic homeostasis. Oliver & Boyd, Edinburgh London

    Google Scholar 

  • Lin AE, Garver KL (1988) Genetic counseling for congenital heart defects. J Pediatr 113:1105–1109

    Article  PubMed  CAS  Google Scholar 

  • Lipshultz SE, Frassica JJ, Orav EJ (1991) Cardiovascular abnormalities in infants pre-natally exposed to cocaine. J Pediatr 118:44–51

    Article  PubMed  CAS  Google Scholar 

  • Little J, Nevin NC (1989) Congenital anomalies in twins in Northern Ireland. III. Anomalies of the cardiovascular system, 1974–1978. Acta Genet Med Gemellol 38:27–35

    PubMed  CAS  Google Scholar 

  • Li Volti A, Distefano G, Garozzo R, Romeo MG, Sciacca P, Mollica F (1991) Autosomal dominant atrial septal defect of ostium secundum type. Annales de Genetique 34:14–18

    Google Scholar 

  • Lubinsky MS (1987) Midline developmental “weakness” as a consequence of determinative field properties. Am J Med Genet (Suppl) 3:23–28

    Article  CAS  Google Scholar 

  • Martin GR, Perry LW, Ferencz C (1989) Increased prevalence of ventricular septal defect: epidemic or improved diagnosis. Pediatrics 83:200–203

    PubMed  CAS  Google Scholar 

  • Mathias RS, Lacro RV, Jones KL (1987) X-linked laterality sequence: Situs inversus, complex cardiac defects, splenic defects. Am J Med Genet 28:111–116

    Article  PubMed  CAS  Google Scholar 

  • Menahem S (1990) Familial aggregation of defects of the left-sided structures of the heart. Int J Cardiol 29:239–240

    Article  PubMed  CAS  Google Scholar 

  • Merker HJ (1988) Überlegungen zum Problem der „kritischen Phase“ in der Teratologie. Internist 29:170–178

    PubMed  CAS  Google Scholar 

  • Mitchell SC, Korones SB, Berendes HW (1973) Congenital heart disease in 56109 births. Circulation 43:323–332

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Nora JJ (1968) Multifactorial inheritance hypothesis for the etiology of congenital heart diseases (The genetisch-environmental interaction). Circulation 38:604

    PubMed  CAS  Google Scholar 

  • Nora JJ, Nora AH (1978) Genetics and counseling in cardiovascular diseases. Thomas, Springfield/Ill

    Google Scholar 

  • Nora JJ, Nora AH (1983) Genetic epidemiology of congenital heart diseases. Prog Med Genet 5:91–137

    PubMed  CAS  Google Scholar 

  • Nora JJ, Nora AH (1984) The environmental contribution to congenital heart diseases. In: Nora JJ, Takao A (eds) Congenital heart disease causes and processes. Futura Publ Co, MT Kisco, NY, pp 15–27

    Google Scholar 

  • Nora JJ, Nora AH (1987) Maternal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogens. Am J Cardiol 59:459–463

    Article  PubMed  CAS  Google Scholar 

  • Nora JJ, Nora AH (1988) Update on counseling the family with a first-degree relative with a congenital heart defect. Am J Med Genet 29:137–142

    Article  PubMed  CAS  Google Scholar 

  • Ohdo S, Makokoro H, Sonoda T, Hayakawa K (1986) Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet 23:242–244

    Article  PubMed  CAS  Google Scholar 

  • Opitz JM (1979) The developmental field concept in clinical genetics. Birth Defects: Original Article Series XV 8:107–111

    Google Scholar 

  • Opitz JM (1982) The developmental field concept in clinical genetics. J Pediatr 101: 805–809

    Article  PubMed  CAS  Google Scholar 

  • Opitz JM, Gilbert EF (1982) Editorial Comment: CNS anomalies and the midline as a “developmental field”. Am J Med Genet 12:443–455

    Article  PubMed  CAS  Google Scholar 

  • Opitz JM, Herrmann J, Pettersen JC, Bersu ET, Colacino SC (1979) Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man. Adv Hum Genet 9:71–164

    PubMed  CAS  Google Scholar 

  • Pankau R, Funda J, Wessel A (1990a) Interrupted aortic arch typ B1 in a brother and Sister: suggestion of a recessive gene. Am J Med Genet 36:175–177

    Article  CAS  Google Scholar 

  • Pankau R, Siekmeyer W, Stoffregen R (1990b) Tetralogy of Fallot in three sibs. Am J Med Genet 37:532–533

    Article  CAS  Google Scholar 

  • Patterson DF (1968) Epidemiologic and genetic studies of congenital heart disease in the dog. Circulation 23:171

    CAS  Google Scholar 

  • 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. Birth Defects: Original Article Series XIV 7:315–347

    Google Scholar 

  • Patterson DF, Detweiler DK (1967) Hereditary transmission of patent ductus arteriosus in the dog. Am Heart J 74:289

    Article  PubMed  CAS  Google Scholar 

  • Patterson DF, Pyle RL, Mierop L van, Melbin J, Olson M (1974) Hereditary defects of the conotruncal septum in keeshond dogs: pathologic and genetic studies. Am J Cardiol 34:187

    Article  PubMed  CAS  Google Scholar 

  • Patterson DF, Haskins ME, Schnorr MA (1981) Hereditary dysplasia of the pulmonic valve in beagle dogs. Am J Cardiol 34:187

    Article  Google Scholar 

  • Pexieder T (1986) Teratogens. In: Pierpont ME, Moller JH (eds) Genetics of cardiovascular disease. Martinus Nijhoff, Amsterdam, pp 25–68

    Google Scholar 

  • Pierpont ME, Gobel JW, Moller JH, Edwards JE (1988) Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch. Am J Cardiol 61:423–427

    Article  PubMed  CAS  Google Scholar 

  • Polani PE (1968) Chromosomal abnormalities and congenital heart disease. Guys Hosp Report 117:323–337

    CAS  Google Scholar 

  • Polani PE, Campbell M (1955) An aetiological study of congenital heart disease. Ann Hum Genet 19:209

    Article  PubMed  CAS  Google Scholar 

  • Price B (1950) Primary biasses in twin studies. A review of prenatal and natal difference producing factors in monozygotic pairs. Am J Hum Genet 2:293–352

    PubMed  CAS  Google Scholar 

  • Rao BNS, Anderson RC, Edwards JE (1971) Anatomic variation in tetralogy of Fallot. Am Heart J 81:361–371

    Article  PubMed  CAS  Google Scholar 

  • Rees S, Sommerville J (1969) Aortography in Fallot’s tetralogy and variance. Br Heart J 31:146–153

    Article  PubMed  CAS  Google Scholar 

  • Rein AJJT, Dollberg S, Gale R (1990) Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations. Am J Med Genet 36:353–355

    Article  PubMed  CAS  Google Scholar 

  • Roessle R (1940) Die pathologische Anatomie der Familie. Springer, Berlin

    Book  Google Scholar 

  • Rose V, Gold RJ, Lindsay G, Allen M (1985) A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Coll Cardiol 6:376–382

    Article  PubMed  CAS  Google Scholar 

  • Roskes EJ, Boughman JA, Schwartz S, Cohen MM (1990) Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review. Clin Genet 38:198–210

    Article  PubMed  CAS  Google Scholar 

  • Rutstein DD, Nickerson RJ, Heald FP (1952) Seasonal incidence of patent ductus arteriosus and maternal rubella. Am J Dis Child 84:199

    CAS  Google Scholar 

  • Sanchez-Cascos A (1978) The recurrence risk in congenital heart disease. Eur J Cardiol 7:197–210

    PubMed  CAS  Google Scholar 

  • Schinzel AA (1983) Cardiovascular defects associated with chromosomal aberrations and malformation syndromes. Prog Med Genet 5:309–379

    Google Scholar 

  • Shepard TH (1982) Detection of human teratogenic agents. J Pediatr 101:810–815

    Article  PubMed  CAS  Google Scholar 

  • Shepard TH (1986) Catalog of teratogenic agens, 5th edn. Johns Hopkins University Press, Baltimore

    Google Scholar 

  • Sherman J, Angulo M, Boxer RA, Gluck R (1985) Possible mitochondrial inheritance of congenital cardiac septal defects. J Engl J Med 313:186–187

    CAS  Google Scholar 

  • Shokeir MH (1971) Hypoplastic left heart syndrome: an autosomal recessive disorder. Clin Genet 2:7

    Article  PubMed  CAS  Google Scholar 

  • Spahn U (1964) Familiäre Häufung angeborener Herzfehler. Z Kinderheilkd 90:167

    Article  PubMed  CAS  Google Scholar 

  • Spemann H (1936) Experimentelle Beiträge zu einer Theorie der Entwicklung. Julius Springer, Berlin

    Book  Google Scholar 

  • Spemann H, Mangold H (1924) Über Induktion von Embryonalanlagen durch Implantation artfremder Organisatoren. Arch Mikrosk Anat 100:599–638

    Google Scholar 

  • Strisciuglio P, Sebastio G, Andria G, Maione S, Raia V (1983) Severe cardiac anomalies in sibs with Larsen syndrome. J Med Genet 20:422–424

    Article  PubMed  CAS  Google Scholar 

  • Taussig HB (1982) World survey of the common cardiac malformations. Developmental error or genetic variant? Am J Cardiol 50:544–559

    Article  PubMed  CAS  Google Scholar 

  • ter Haar B (1976) Pers Mitt

    Google Scholar 

  • Tikkanen J, Heinonen OP (1991) Maternal exposure to chemical and physical factors during pregnancy and cardiovascular malformations in the offspring. Teratology 43:591–600

    Article  PubMed  CAS  Google Scholar 

  • Tikkanen J, Heinonen OP (1992) Congenital heart disease in the offspring and maternal habits and home exposures during pregnancy. Teratology 46:447–454

    Article  PubMed  CAS  Google Scholar 

  • Tiller GE, Watson MS, Duncan LM, Dowton SB (1988) Congenital heart defect in a patient with deletion of chromosome 7q. Am J Med Genet 29:283–287

    Article  PubMed  CAS  Google Scholar 

  • Töndury G, Smith DW (1966) Fetal rubella pathology. J Pediatr 68:876

    Article  Google Scholar 

  • Tubman TRJ, Shields MD, Craig BG (1991) Congenital heart disease in Down’s syndrome: Two year prospective early screening study. Br Med J 302:1425–1427

    Article  CAS  Google Scholar 

  • Ursell PC, Byrne JM, Strobine BA (1985) Significance of cardiac defects in the developing fetus. A study of spontaneous abortuses. Circulation 72:1232–1236

    Article  PubMed  CAS  Google Scholar 

  • Praagh R van, Takao A (1980) Etiology and morphogenesis of congenital heart disease. MT Kisco, NY: Futura

    Google Scholar 

  • Praagh R van, Praagh S van (1965) The anatomy of common aorticopulmonary trunk (Truncus arteriosus communis) and its embryologic implications. Am J Cardiol 16: 406–425

    Article  PubMed  Google Scholar 

  • Verkerk PH, Vanspronsen FJ, Smith GPA, Cornel MC, Kuipers JRG, Verloovevanhorick SP (1991) Prevalence of congenital heart disease in patients with phenylketonuria. J Pediatr 119:282–283

    Article  PubMed  CAS  Google Scholar 

  • Wald N (1991) Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study. Lancet 338:131–137

    Article  Google Scholar 

  • Weatherall JAC (1983a) Registration of congenital abnormalities and multiple births. Eurocat Report 1979–80–81, 5

    Google Scholar 

  • Weatherall JAC (1983b) Registration of congenital abnormalities and multiple births. Eurocat Report 1982, 5

    Google Scholar 

  • Wegener W (1961) Über die experimentelle Erzeugung von Herzfehlmißbildungen durch Trypanblau. Arch Kreislaufforsch 34:99

    Article  PubMed  CAS  Google Scholar 

  • Whittemore R (1986) Genetic counseling for young adults who have a congenital heart defect. Pediatrician 13:220–227

    PubMed  CAS  Google Scholar 

  • Whittemore R, Hobbins JC, Engle MA (1982) Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease. Am J Cardiol 50:641

    Article  PubMed  CAS  Google Scholar 

  • Whittemore R, Wells JA, Castellsaue-Piquet X, Holabird NB (1988) Congenital heart defects in the progency of affected mothers versus fathers. Circulation 78:396

    Google Scholar 

  • Williamson EM (1969) A family study of atrial septal defect. J Med Genet 6:255–265

    Article  PubMed  CAS  Google Scholar 

  • Wright S (1934) The results of crosses between inbred strains of guinea pigs differing in number of digits. Genetics 19:537–551

    PubMed  CAS  Google Scholar 

  • Zellers TM, Driscoll DJ, Michels VV (1990) Prevalence of significant congenital heart defects in children of parents with Fallot’s tetralogy. Am J Cardiol 65:523–526

    Article  PubMed  CAS  Google Scholar 

  • Zetterqvist P (1960) Multiple occurrence of atrial septal defect in a family. Acta Paediat (Uppsala) 49:741

    Article  CAS  Google Scholar 

  • Zetterqvist P (1972) A clinical and genetic study of congenital heart defects. Institute of Medical Genetics Publications Uppsala, pp 1–80

    Google Scholar 

  • Zetterqvist P, Turesson I, Johansson BW, Laureil S, Ohlsson NM (1971) Dominant mode of inheritance in atrial septal defect. Clin Genet II: 78

    Google Scholar 

  • Zierler S, Rothman KS (1985) Congenital heart disease in relation to maternal use of bendectin and other drugs in early pregnancy. New Engl J Med 313:347–352

    Article  PubMed  CAS  Google Scholar 

  • Zlotogora J, Schimmel MS, Glaser Y (1987) Familial situs inversus and congenital heart defects. Am J Med Genet 26:181–184

    Article  PubMed  CAS  Google Scholar 

  • Zoethout HE, Bonham-Carter RE, Carter CO (1964) A family study of aortic stenosis. J Med Genet 1:2–9

    Article  PubMed  CAS  Google Scholar 

  • Zuckerman HS, Zuckerman GH, Mammen RE, Wassermil M (1962) Atrial septal defect, familial occurrence in four generations of one family. Am J Cardiol 9:515

    Article  Google Scholar 

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© 1993 Springer-Verlag Berlin Heidelberg

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Fuhrmann, W. (1993). Humangenetische Aspekte der angeborenen Fehlbildungen des Herzens und der großen Gefäße. In: Pathologische Anatomie des Herzens und seiner Hüllen. Spezielle pathologische Anatomie, vol 22 / 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-51156-1_9

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  • DOI: https://doi.org/10.1007/978-3-642-51156-1_9

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