Implications of Agenesis of the Spleen on the Pathogenesis of Conotruncus Anomalies in Childhood

Ivemark, Biörn

doi:10.1111/j.1651-2227.1955.tb04287.x

Cited by 158 publications

(58 citation statements)

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“…Asplenia can be functional as in sickle cell anaemia, acquired after trauma or surgery, or congenital (see Table 1). Congenital asplenia often occurs in the context of a recognised malformation syndrome: the Ivemark syndrome, also called asplenia syndrome (OMIM 208530) [12,20]. In this syndrome, malformations arise as lateralisation defects of organs in the thorax and the abdomen, now classified as situs abnormalities or heterotaxia syndromes with or without cardiac abnormalities, which are clinically and genetically heterogeneous conditions [1].…”

Section: Introductionmentioning

confidence: 97%

Familial isolated congenital asplenia: case report and literature review

et al. 2009

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Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a family of three siblings with isolated congenital asplenia and unaffected parents, suggestive of recessive inheritance. The diagnosis in the proband was made post mortem following overwhelming pneumococcal sepsis. We also review the literature and compare the eight families previously reported with congenital isolated asplenia.

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Section: Introductionmentioning

confidence: 97%

Familial isolated congenital asplenia: case report and literature review

et al. 2009

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“…Ivemark (1955), reviewing 55 reported cases of splenic agenesis and 14 new serial cases from necropsy records, found that (1) 97 per cent had cono-truncal malformations (see Table IV); (2) that 56 of the 58 with an adequate description (970 O) had malformations of the region of the atrio-ventricular valve, a common A-V ostium in 79 per cent (with cor biloculare in 48 per cent) and mitral or tricuspid atresia in others; and (3) 85 per cent had some degree of situs inversus. The form of this was varied and in his tables he includes 23 as dextrocardia and 36 as isolatedlxvocardia.…”

Section: E+mentioning

confidence: 99%

THE MODE OF INHERITANCE IN ISOLATED LAeVOCARDIA AND DEXTROCARDIA AND SITUS INVERSUS

Campbell¹

1963

Heart

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More than twenty years ago, Cockayne (1938) studied 53 examples of complete transposition of the viscera, some that he had collected and others that had been reported. He concluded that it was inherited as a single recessive autosomal character. He mentioned also the three forms of partial transposition-incomplete situs inversus, isolated dextrocardia, and isolated levocardia-and thought they were probably inherited in the same way.Cockayne dealt mainly with patients who had complete situs inversus and no other malformation of the heart. Our 40 subjects all had other malformations of the heart; and 10 had complete situs inversus, 14 isolated dextrocardia, and 16 isolated lkvocardia. We have made inquiries about their families in the same way that we have for those with other malformations of the heart (Polani andCampbell, 1955, 1960; Campbell and Polani, 1961a, b;and Campbell, 1962). Our 40 subjects were taken from a series of 53 patients (11, 22, and 20 of the three groups respectively) seen over the past fifteen years, whom Campbell and Deuchar hope to discuss with an account of the associated malformations, probably in 1964. The only selection was that they all had other malformations of the heart as well as the inversion and were willing to complete our questions about the family. FINDINGS WHEN PROPOSITI HAD SITUS INVERSUS AND OTHER MALFORMATIONS OF THE HEARTWe have obtained answers to our questions about consanguinity of the parents and other malformations in relatives in 10 of the 11 families of propositi with situs inversus associated with other malformations of the heart. In one the parents were first half-cousins (Case 25, Fig. 1), in another they were second cousins (Case 23), and in the other eight they were not known to be related, though in Case 24 the mother's parents were first cousins whose mothers were twins, probably identical twins. The numbers are small, but two cousin marriages in ten families are unlikely to occur by chance. This suggests, as might be expected, that situs inversus may be inherited as a Mendelian recessive character whether it is the sole malformation or is associated with other malformations of the heart. Situs Inversus in these Families. The family history supported some hereditary factor in other ways also, for situs inversus was known to be present in the sister of one (Case 24), in the uncle of another (Case 21), and in the cousin of the mother of a third (Case 31). The first cousin (Case 18) of a fourth subject (Case 25) had inversion of the abdominal viscera but with isolated lkvocardia.This known incidence of other examples of situs inversus, complete in three and partial in a fourth of our ten families, is very striking. We have inquired about the families of more than a thousand patients with malformations of the heart and can remember only one other instance where a relation had situs inversus-a girl with pulmonary atresia whose sister had situs inversus but a heart that was otherwise normal-and, since this was written, a boy with ventricular septal defect whose b...

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“…Non-visualization of the spleen, both, with the 99mTcSc scan and the abdominal ultrasound indicated an anatomical asplenic state, acquired or congenital. Congenital asplenia (Ivemark syndrome) is a rare association of agenesis of the spleen with cyanotic congenital cardiac disease and malposition and nondevelopment of the abdominal viscera (abdominal heterotaxy) [2]. Since our patient had neither of these anomalies, Ivemark syndrome can be ruled out.…”

Section: Discussionmentioning

confidence: 93%