Skip to main content Accessibility help

Extracardiac malformations in asplenia syndrome

  • Steven A. Webber (a1), Glenn P. Taylor (a1), Kim Colwell (a1), George G.S. Sandor (a1) and Michael W.H. Patterson (a1)...


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.


Corresponding author

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.


Hide All
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): 1110.
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: 122128.
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: 387406.
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: 840852.
5.Mierop, Van Mierop, Gessner, IH, Schiebler, GL. Asplenia and polysplenia syndromes. Birth Defects: Original Article Series 1972; 8: 3644.
6.Freedom, RMF. The asplenia syndrome: A review of significant extracardiac structural abnormalities in 29 necropsied patients. J Pediatr 1972; 81: 11301133.
7.Esterley, JR, Oppenheimer, EH. Lymphangiectasis and other pulmonary lesions in the asplenia syndrome. Arch Pathol 1970; 90: 553560.
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: 129135.
9.Ho, SY, Cook, A, Anderson, RH, Allan, LD, Fagg, N. Isomerism of the atrial appendages in the fetus. Pediatr Pathol 1991; 11: 589608.
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: 6076.
11.Layton, WM JrHeart malformations in mice homozygous for a gene causing sirus inversus. Birth Defects: Original Article Series 1978; 14: 277293.
12.Moreno, A, Murphy, EA. Inheritance of Kartagener syndrome. Am J Med Genet 1981; 8: 305313.
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 11261128.
14.Hurwitz, RC, Caskey, CT. Ivemark syndrome in siblings. Clin Genet 1982; 22: 711.
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: 4347.
16.Mathias, RS, Lacro, RV, Jones, KL. X linked laterality sequence: Situs inversus, complex cardiac defects, splenic defects. Am J Med Genet 1987; 28: 111116.
17.Opitz, JM. Editorial comment: The developmental field con cept. Am J Med Genet 1985; 21: 111.
18.Opitz, JM, Gilbert, EF. Editorial comment: CNS anomalies and the midline as a “developmental field”. Am J Med Genet 1982; 12: 443455.
19.Spencer, R. Surgical separation of siamese twins: Case report. Surgery 1956; 39: 827833.
20.Leon, de F.Siamesische zwillinge mit differenten herzmiflbildungen. Virchows Arch 1974; 362: 5157.
21.Ursell, PC, Wigger, HJ. Asplenia syndrome in conjoined twins: A case report. Teratology 1983; 27: 301304.
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: 518524.
23.Shinzel, AAGL, Smith, DW, Miller, JR. Monozygotic twinning and structural defects. J Pediatr 1979; 95: 921930.



Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed