Hostname: page-component-78c5997874-ndw9j Total loading time: 0 Render date: 2024-11-02T22:07:37.572Z Has data issue: false hasContentIssue false
  • English
  • Français

Extracardiac malformations in asplenia syndrome

Published online by Cambridge University Press:  19 August 2008

Steven A. Webber ,
Glenn P. Taylor ,
Kim Colwell ,
George G.S. Sandor  and
Michael W.H. Patterson
Steven A. Webber*
Affiliation:
From the Division of Cardiology, Department of Pediatrics, and the Departments of Cardiothoracic Surgery, Medical Genetics and Pathology, University of British Columbia, Vancouver
Glenn P. Taylor
Affiliation:
From the Division of Cardiology, Department of Pediatrics, and the Departments of Cardiothoracic Surgery, Medical Genetics and Pathology, University of British Columbia, Vancouver
Kim Colwell
Affiliation:
From the Division of Cardiology, Department of Pediatrics, and the Departments of Cardiothoracic Surgery, Medical Genetics and Pathology, University of British Columbia, Vancouver
George G.S. Sandor
Affiliation:
From the Division of Cardiology, Department of Pediatrics, and the Departments of Cardiothoracic Surgery, Medical Genetics and Pathology, University of British Columbia, Vancouver
Michael W.H. Patterson
Affiliation:
From the Division of Cardiology, Department of Pediatrics, and the Departments of Cardiothoracic Surgery, Medical Genetics and Pathology, University of British Columbia, Vancouver
*
Dr.Steven A. Webber.Division of Pediatric Cardiology, Children's Hospital of Pittsburgh3705 Fifth Avenue at DeSoto Street, Pittsburgh, PA 152 13-2583, USA. Tel. 412-692-5540; Fax. 412-692-5138.
Get access Rights & Permissions [Opens in a new window]

Summary

The incidence and spectrum of extracardiac malformations in congenital asplenia syndrome were determined by review of43 cases (40 live-births) identified in the province of British Columbia over a 21 year period. Major extracardiac anomalies (excluding those of abnormal arrangement of the organs) were identified in nine cases (21%), and minor anomalies were present in an additional twelve infants (28%). Extracardiac anomalies were associated with one spontaneous stillbirth, one termination of pregnancy, and two early neonatal deaths. In an additional four newborns, they contributed to a decision not to palliate the complex cardiac anomalies. Gastrointestinal malformations led to neonatal intestinal obstruction in four infants. Of the 14 surviving children, one is severely handicapped due to a congenital anomaly of the central nervous system. The clinical significance of extracardiac malformations and their developmental implications are discussed.

Keywords

Aspleniaextracardiac anomalies
Type
Original Articles
Information
Cardiology in the Young , Volume 2 , Issue 2 , April 1992 , pp. 136 - 140
Copyright
Copyright © Cambridge University Press 1992

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1.Ivemark, BI. Implications of agenesis of the spleen on the pathogenesis of cono-truncus anomalies in childhood. An analysis of the heart malformations in the splenic agenesis syndrome, with 14 new cases. Acta Paediatr Scand 1955; 44(Suppl 104): 1–110.CrossRefGoogle Scholar
2.Anderson, C, Devine, WA, Anderson, RH, Debich, DE, Zuberbuhier, JR. Abnormalities of the spleen in relation to congenital malformations of the heart: a survey of necropsy findings in children. Br Heart J 1990; 63: 122–128.CrossRefGoogle Scholar
3.Ruttenberg, HD, Neufeld, HN, Lucas, RV, Carey, LS, Adams, P JrAnderson, RC, Edwards, JE. Syndrome ofcongenital cardiac disease with asplenia. Distinction from other forms of con genital cyanotic cardiac disease. Am J Cardiol 1964; 13: 387–406.CrossRefGoogle Scholar
4.Rose, V, Izukawa, T, Moes, CAP. Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malforma tions in 60 cases with special reference to diagnosis and prognosis. Br Heart J 1975; 37: 840–852.CrossRefGoogle Scholar
5.Mierop, Van Mierop, Gessner, IH, Schiebler, GL. Asplenia and polysplenia syndromes. Birth Defects: Original Article Series 1972; 8: 36–44.Google Scholar
6.Freedom, RMF. The asplenia syndrome: A review of significant extracardiac structural abnormalities in 29 necropsied patients. J Pediatr 1972; 81: 1130–1133.CrossRefGoogle ScholarPubMed
7.Esterley, JR, Oppenheimer, EH. Lymphangiectasis and other pulmonary lesions in the asplenia syndrome. Arch Pathol 1970; 90: 553–560.Google Scholar
8.Webber, SA, Sandor, GGS, Patterson, MWN, Taylor, GP, Wadsworth, L, Blanc, Le JG. Prognosis in asplenia syndrome: A population based review. Cardiol Young 1992; 2: 129–135.CrossRefGoogle Scholar
9.Ho, SY, Cook, A, Anderson, RH, Allan, LD, Fagg, N. Isomerism of the atrial appendages in the fetus. Pediatr Pathol 1991; 11: 589–608.CrossRefGoogle ScholarPubMed
10.Hutchins, GM, Moore, GW, Lipford, EH, Haupt, HM, Walker, MC. Asplenia and polysplenia malformation complexes ex plained by abnormal embryonic body curvature. Path Res Pract 1983; 177: 60–76.CrossRefGoogle Scholar
11.Layton, WM JrHeart malformations in mice homozygous for a gene causing sirus inversus. Birth Defects: Original Article Series 1978; 14: 277–293.Google Scholar
12.Moreno, A, Murphy, EA. Inheritance of Kartagener syndrome. Am J Med Genet 1981; 8: 305–313.CrossRefGoogle ScholarPubMed
13.Burn, J, Coffey, R, Allan, LD, Robinson, P, Pembrey, ME, Macartney, FJ. Isomerism: a genetic analysis. In: Doyle, EF, Engle, MA, Gersony, WM, Rashkind, WJ, Talner, NS (eds). Pediatric Cardiology; Proceedings of the Second World Con gress. Springer-Verlag, New York, 1986, pp 1126–1128.CrossRefGoogle Scholar
14.Hurwitz, RC, Caskey, CT. Ivemark syndrome in siblings. Clin Genet 1982; 22: 7–11.CrossRefGoogle ScholarPubMed
15.Niikawa, N, Kohsaka, S, Mizumoto, M, Hamada, I, Kajii, T. Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. Am J Med Genet 1983; 16: 43–47.CrossRefGoogle ScholarPubMed
16.Mathias, RS, Lacro, RV, Jones, KL. X linked laterality sequence: Situs inversus, complex cardiac defects, splenic defects. Am J Med Genet 1987; 28: 111–116.CrossRefGoogle ScholarPubMed
17.Opitz, JM. Editorial comment: The developmental field con cept. Am J Med Genet 1985; 21: 1–11.CrossRefGoogle Scholar
18.Opitz, JM, Gilbert, EF. Editorial comment: CNS anomalies and the midline as a “developmental field”. Am J Med Genet 1982; 12: 443–455.CrossRefGoogle Scholar
19.Spencer, R. Surgical separation of siamese twins: Case report. Surgery 1956; 39: 827–833.Google ScholarPubMed
20.Leon, de F.Siamesische zwillinge mit differenten herzmiflbildungen. Virchows Arch 1974; 362: 51–57.CrossRefGoogle Scholar
21.Ursell, PC, Wigger, HJ. Asplenia syndrome in conjoined twins: A case report. Teratology 1983; 27: 301–304.CrossRefGoogle ScholarPubMed
22.Rossi, MB, Burn, J, Ho, SY, Thiene, G, Devine, WA, Anderson, RH. Conjoined twins, right atrial isomerism, and sequential segmental analysis. Br Heart J 1987; 58: 518–524.CrossRefGoogle ScholarPubMed
23.Shinzel, AAGL, Smith, DW, Miller, JR. Monozygotic twinning and structural defects. J Pediatr 1979; 95: 921–930.CrossRefGoogle Scholar