Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down’s syndrome

Biase, Luciano De; Ciommo, Vincenzo Di; Ballerini, Luigi; Bevilacqua, Maurizio; Marcelletti, Carlo; Marino, Bruno

doi:10.1016/s0022-5223(19)36064-7

Cited by 96 publications

(31 citation statements)

References 10 publications

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“…Exclusion of linkage between the polymorphic markers on chromosome 21q and the defect in four families has indicated heterogeneity of AVCD [Wilson et al, 1993;Cousineau et al, 1994;Gennarelli et al, 19941. This result was in part predictable based on the anatomical differences of AVCD in trisomy 21 patients compared to patients with normal chromosomes, in whom there is a prevalence of partial forms and left side obstructions, right malalignment of the AVCD, including left ventricle hypoplasia [De Biase et al, 1986;Marino et al, 1990;Carmi et al, 19901. Interestingly, our three patients with AVCD and 8p deletion also had pulmonary valve stenosis, which is rare both in patients with trisomy 21 and in those with normal chromosomes.…”

Section: Discussionmentioning

confidence: 97%

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

et al. 1995

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Atrioventricular canal defects (AVCD) constitute the predominant congenital heart defect in Down syndrome. For this reason, a candidate gene involved in atrioventricular canal development was previously searched and excluded in dominant pedigrees of AVCD, using linkage analysis of polymorphisms from chromosome 21. Because of the striking association between 8p deletion and AVCD, a search for an AVCD gene was carried out in two pedigrees of individuals with autosomal dominant AVCD using a set of DNA markers of the 8pter-->q12 region. These two families include affected individuals and subjects who have transmitted the defect but are not clinically affected. Two-point lod scores were significantly negative for all markers at penetrance levels of 90% and 50%. Multipoint analysis excluded the region covered by the markers LPL-D8S262 and 30 cM to either side of this area. This result corroborates heterogeneity of this heart defect and indicates that the genetic basis of familial AVCD is different from AVCD associated to either trisomy 21 or 8p deletion.

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Section: Discussionmentioning

confidence: 97%

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

et al. 1995

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“…Moreover, deletions in humans of LEFTYA and LEFTYB (homologues of murine Lefty‐1 and ‐2) have been described in association with left pulmonary isomerism, complete atrioventricular canal, left ventricular hypoplasia, normal related great arteries and systemic outflow‐tract obstruction [Kosaki et al, 1999b]. This cardiac phenotype is frequent in patients with polysplenia [Carotti et al, 1995], but also in children with “non‐Down atrioventricular canal” in situs solitus [De Biase et al, 1986]. Similarities between these two conditions were previously reported [Marino, 1992].…”

Section: To the Editormentioning

confidence: 99%

Transposition of the great arteries in asplenia and polysplenia phenotypes

et al. 2002

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“…In the child with Down syndrome, AVC was associated with right-sided dominance resulting in a hypoplastic left ventricle. This association is rare in trisomy 21 patients, but characteristic in those with non-Down AVC [De Biase et al, 1986;Marino et al, 1990]. In this family, there were different and atypical AVC phenotypes.…”

Section: Discussionmentioning

confidence: 73%

Congenital heart defect in sibs with discordant karyotypes

et al. 1998

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Congenital heart defects (CHDs) are genetically heterogeneous, associated with a variety of genetic conditions. Familial aggregation of CHD in patients with and without Down syndrome is rare. We report on the occurrence of concordant CHD in three sets of sibs with discordant karyotypes. In the first family, atrioventricular canal (AVC) was diagnosed in a chromosomally normal child and in his brother with Down syndrome. In the second family, AVC was associated with trisomy 21 in one sib and with trisomy 18 in the other. In the third family, tetralogy of Fallot was present in one patient with Down syndrome and in his nonsyndromic sister. Although the genetic heterogeneity of Down and non-Down CHD is not disputed, a susceptibility to both euploid and aneuploid CHDs could exist, and common predisposing factors could play a role in both conditions.

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Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down’s syndrome

Cited by 96 publications

References 10 publications

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

Transposition of the great arteries in asplenia and polysplenia phenotypes

Congenital heart defect in sibs with discordant karyotypes

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