Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings

Devriendt, Koenraad; Casaer, Alexandra; Cauter, A. Van; Zegher, Francis de; Dumoulin, M; Gewillig, Marc; Devlieger, Hugo

doi:10.1007/bf01954484

Cited by 14 publications

(7 citation statements)

References 23 publications

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“…This constellation of malformations is also seen in the polyasplenia syndrome, another disorder frequently associated with AVSD [Carmi et al, 1992]. It is, therefore, possible that the heart malformations seen in chromosome 8p deletions are related to a laterality defect, which can sometimes manifest only at the level of the heart [Devriendt et al, 1994].…”

Section: Discussionmentioning

confidence: 94%

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8

Claeys

Holvoet²,

Eyskens

et al. 1997

Am. J. Med. Genet.

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We report the clinical findings in 5 patients with a terminal deletion of the short arm of chromosome 8. Mild developmental delay was constantly present, in association with microcephaly in 4 of 5 patients. Facial anomalies were mild or absent. A congenital heart defect was present in 3 patients: an atrioventricular septal defect (AVSD) in 2 and an atrial septal defect type II (ASDII) with pulmonary stenosis in one. A highly similar pattern of behavioural difficulties was present in the 3 older children (8-11 years), with outbursts of aggressiveness and destructive behaviour. Follow-up in one patient showed that at the age of 16 years, these behavioural problems had largely disappeared. This observation suggests that in addition to mental retardation, microcephaly, congenital heart defect (typically AVSD), a terminal deletion of chromosome 8p may be associated with a characteristic behavioural phenotype during childhood.

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Section: Discussionmentioning

confidence: 94%

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8

Claeys

Holvoet²,

Eyskens

et al. 1997

Am. J. Med. Genet.

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“…More likely is an X-linked inheritance [86] and autosomal dominance with variable expressivity and incomplete penetrance [83,87]. As beforementioned, in 70-80% of patients with the asplenia syndrome TAPVC is the most characteristic heart defect [78]. Both of these laterality disorders are suggested to be different expressions of a single genetic disorder [78].…”

Section: Tapvc and Geneticsmentioning

confidence: 90%

“…Since both Pitx2c mutants and TAPVC patients lack a PV myocardial sleeve, there might be a connection between Pitx2c and TAPVC. This possibility is supported by the fact that right atrial isomerism as well as TAPVC frequently go together with asplenia [78]. Until now, a relation between Pitx2c and asplenia, was not reported in literature.…”

Section: Lack Of a Pv Myocardial Sleeve In Tapvcmentioning

confidence: 91%

“…As beforementioned, in 70-80% of patients with the asplenia syndrome TAPVC is the most characteristic heart defect [78]. Both of these laterality disorders are suggested to be different expressions of a single genetic disorder [78]. Because of scarcity of multigeneration TAPVC families, identification of candidate genes for TAPVC is difficult.…”

Section: Tapvc and Geneticsmentioning

confidence: 96%

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Normal and abnormal development of pulmonary veins: State of the art and correlation with clinical entities

Douglas

Jongbloed

DeRuiter

et al. 2011

International Journal of Cardiology

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“…Nevertheless, the proportion of patients with heterotaxy and a detected mutation in genes of the Nodal cascade is actually low, 13.3% among sporadic cases and 18% among sporadic and familial cases [Zlotogora and Elian, 1981;Hurwitz and Caskey, 1982;Niikawa et al, 1983;Devriendt et al, 1994;Ferrero et al, 1997;Bamford et al, 2000;Lin et al, 2000; partly reviewed in Ehlers and Engle, 1996]. So far, the relative contributions to the risk of recurrence for specific cardiac defects by sib recurrence versus parental segregation were difficult to decouple even in large scale, very detailed studies [e.g., Øyen et al, 2009].…”

Section: Fitting With Available Datamentioning

confidence: 97%

Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?

Oliverio

Digilio

Versacci

et al. 2010

American J of Med Genetics Pt A

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The body of most animals display left-right asymmetry of internal organs. Alteration of such asymmetry results in severe congenital defects particularly affecting the cardiovascular system. The earliest known genes involved in asymmetry, the Nodal signalling cascade, are expressed asymmetrically during embryonic development. Nodal was discovered in the mouse, but orthologs (also involved in left-right specification) were reported in ascidians, sea-urchins, and snails. Mutations in Nodal-pathway genes cause alteration of several aspects of chirality, but not entirely mirror phenotypes of the body. Other factors upstream of nodal must be involved in the generation of left-right asymmetry. In snails, breeding experiments have demonstrated that chirality is controlled by a nuclear gene with maternal effect. Given the available evidence, we propose that an evolutionarily conserved genetic basis of chirality (the same that controls left-right asymmetry in snails) is a major synapomorphy of the Bilateria. This hypothesis fits with the observation that: (a) the proportion of patients with heterotaxy and a detected mutation in a gene of the Nodal cascade is actually low, and (b) horizontal recurrence of laterality defects is remarkably more frequent than vertical recurrence, and includes a notable number of affected sibs and/or repeated abortions from unaffected mothers. Identification of the maternal gene(s) involved will allow for the identification of homozygous females at risk of having affected children and spontaneous abortions, and would provide a general medical framework for understanding the genetics of most alterations of chirality.

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Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings

Cited by 14 publications

References 23 publications

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8

Normal and abnormal development of pulmonary veins: State of the art and correlation with clinical entities

Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?

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