Summary
A group of 186 propositi with transposition of the great vessels (TGV) and 33 propositi with tricuspid atresia (TA) were studied. Data were obtained from hospital records and complemented by questionnaires and in part by personal interview and clinical examination. The main results were among sibs of propositi with TGV an increased incidence of TGV (0.0135±0.0054) and of congenital heart disease in general (0.0495±0.0103) (K=0, rmin=1). Among 92 sibs of propositi with TA only one with patent ductus arteriosus was found. The sex ratio of the propositi with TGV was 1.95. There was also noted a highly abnormal sex ratio among sibs of parents of patients with TGV in part confirming the findings of Knox.
A male excess was found in paternal and maternal sibships and was also present in sibships of propositi. Data about seasonal distribution were inconclusive as were data about consanguinity of parents. No parental age or birth order effect was found in either group.
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Literature
Carter, C. O.: The inheritance of congenital pyloric stenosis. Brit. med. Bull. 17, 251 (1961).
Campbell, M.: Causes of malformations of the heart. Brit. med. J. 1965 II, 895.
Coleman, E.: Serious congenital heart disease in infancy. Brit. Heart J. 27, 42 (1965).
Finney, D. J.: The truncated binomial distribution. Ann. Eugen. (Lond.) 14, 319 (1947/49).
Fuhrmann, W.: Untersuchungen zur Ätiologie der angeborenen Angiokardiopathien. Acta genet. (Basel) 11, 289 (1961).
—: Genetische und peristatische Ursachen angeborener Angiokardiopathien. Ergebn. inn. Med. Kinderheilk. N. F. 18, 47 (1962).
—: Congenital heart disease in sibships ascertained by two affected siblings. Humangenetik 6, 1 (1968).
Gasul, B. M., R. A. Arcilla, and M. Lev: Heart disease in children. Philadelphia: Lippincott 1968.
Gloor, F.: Beitrag zur Frage der Mißbildungskorrelationen am menschlichen Herzen. Ann. paediat. (Basel) 181, 99 (1953).
Haldane, J. B. S., and C. A. B. Smith: A simple exact test for birth order effect. Ann. Eugen. (Lond.) 14, 116 (1947/49).
Kaelin, A.: Statistische Prüf- und Schätzverfahren für die relative Häufigkeit von Merkmalsträgern in Geschwisterreihen bei einem der Auslese unterworfenen Material mit Anwendung auf das Retinagliom. Arch. Klaus-Stift. Vererb.-Forsch. 30, 263 (1956).
Keith, J. D., R. D. Rowe, and P. Vlad: Heart disease in infancy and childhood. New York: MacMillan 1958.
Knox, G.: The numbers of aunts and uncles of normal and congenital abnormal children. Ann. hum. Genet. 23, 251 (1959).
Lambert, E. C., R. V. Canent, and A. R. Hohn: Congenital cardiac anomalies in the newborn. Pediatrics 37, 343 (1966).
Lenz, W.: Die Abhängigkeit der Mißbildungen vom Alter der Eltern. Verh. dtsch. Ges. inn. Med. 64, 74 (1959a).
—: Der Einfluß des Alters der Eltern und der Geburtennummer auf angeborene pathologische Zustände beim Kind. Acta genet. (Basel) 9, 169 u. 249 (1959b).
MacMahon, B.: Association of congenital malformation of the heart with birth rank and maternal age. Brit. J. soc. Med. 6, 178 (1952).
McKeown, t., and R. G. Record: Maternal age and birth order as indices of environmental influence. Amer. J. hum. Genet. 8, 8 (1956).
Miller, R. A., and E. Zervopoulos: Congenital malformations of the heart in siblings. Amer. J. Dis. Child. 96, 443–445 (1958) (Society Transactions).
Monie, I. W., E. Takacs, and J. Warkany: Transposition of the great vessels and other cardiovascular abnormalities in rat fetuses induced by Trypan blue. Anat. Rec. 156, 175 (1966).
Nadas, A. S.: Pediatric cardiology. 2nd ed. Philadelphia: Saunders 1963.
Noonan, J. A., A. S. Nadas, A. M. Rudolph, and G. B. C. Harris: Transposition of the great arteries. A correlation of clinical, physiologic and autopsy data. New Engl. J. Med. 263, 592 (1960).
Ober, W. B., and T. E. Moore, Jr.: Congenital cardiac malformations in the neonatal period: An autopsy study. New Engl. J. Med. 253, 271 (1955).
Paul, M. H., St. van Praagh, and R. van Praagh: Transposition of the great arteries. Personal communication.
Van Praagh, R., P. A. Ongley, and H. J. C. Swan: Anatomic types of single or common ventricle in man: morphologic and geometric aspects of 60 necropsied cases. Amer. J. Cardiol. 13, 367 (1964).
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This work has been carried out in part during the author's stay at the Genetic Clinic of the Children's Memorial Hospital, Dept. of Pediatrics, Northwestern University Medical School (Prof. D. Y.-Y. Hsia, M.D.). Data have been collected in collaboration with Dr. M. H. Paul, director of the Dept. of Cardiology of the Children's Memorial Hospital, Willis J. Potts Children's Heart Center. The author was supported in part by a grant from the US Public Health Service, National Institutes of Health and a Fulbright Travel Grant.
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Fuhrmann, W. A family study in transposition of the great vessels and in tricuspid atresia. Hum Genet 6, 148–157 (1968). https://doi.org/10.1007/BF00297723
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DOI: https://doi.org/10.1007/BF00297723