Congenital heart defect in sibs with discordant karyotypes

Digilio, María Cristina; Marino, Bruno; Canepa, Salvatore A.; Borzaga, Umberto; Giannotti, Aldo; Dallapiccola, Bruno

doi:10.1002/(sici)1096-8628(19981102)80:2<169::aid-ajmg15>3.0.co;2-e

Cited by 14 publications

(5 citation statements)

References 30 publications

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“…Additionally, the same cardiac defect may segregate in sibs with discordant karyotypes. As an example, we reported one sib affected by Down syndrome and the other having nonsyndromic AVCD with normal chromosomes [11]. Moreover, we described families segregating syndromic CHD related to deletion 22 in one family member and nonsyndromic conotruncal defect in a direct relative [12].…”

Section: Peculiar Familial Recurrencesmentioning

confidence: 99%

Familial recurrence of congenital heart disease: an overview and review of the literature

Calcagni

Digilio

Sárközy³

et al. 2006

Eur J Pediatr

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Familial recurrence is one of the classic patterns for the clinical presentation of congenital heart disease (CHD). In recent years, many groups studied empiric recurrence risk in these heart defects, and the aim of this review was to analyse the patterns of inheritance detected in different types of CHD, including atrioventricular canal defect, tetralogy of Fallot, transposition of the great arteries, left-sided obstructions and atrial septal defect. These studies may influence clinical practise guidelines through accurate genetic counselling, but also, they may have important implications in the knowledge of genetic and pathogenetic mechanisms of CHD.

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Section: Peculiar Familial Recurrencesmentioning

confidence: 99%

Familial recurrence of congenital heart disease: an overview and review of the literature

Calcagni

Digilio

Sárközy³

et al. 2006

Eur J Pediatr

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“…The occurrence of CHD in relatives of DS patients has been previously described (Digilio et al, 1998b;Ferencz et al, 1993); it can suggest the presence of factors outside chromosome 21 that contribute to the specification of cardiac anatomy in DS and act in the family as a susceptibility factor for cardiovascular malformations.…”

Section: Familial Recurrencementioning

confidence: 99%

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Vergara

Digilio

Zorzi

et al. 2006

Clinical Dysmorphology

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Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricular canal defect tetralogy of Fallot. All children underwent complete cardiovascular, clinical phenotypic and genetic evaluation. A genetic syndrome or extracardiac anomalies were found in 56 patients (87.5%). Down syndrome (43 patients, 67.2%) was the most frequent genetic diagnosis. Other syndromes were 8p deletion, trisomy 13, duplication 5p, cranio-cerebello-cardiac syndrome, Cantrell syndrome, CHARGE association, VACTERL association, and DiGeorge syndrome related to maternal diabetes. No patients in our series had 22q11 deletion. Tetralogy of Fallot with extreme dextroposition of the aorta was found in seven patients (only one with Down syndrome). Additional cardiac malformations were present in 23 patients (only 11 with Down syndrome). The association between atrioventricular canal defect and tetralogy of Fallot represents a cardiac phenotype with strong genetic characteristics. For this reason, a careful genetic examination is required. Our study confirms the high prevalence of Down syndrome, but also reveals a significant genetic heterogeneity. Additional cardiac defects are prevalent in patients without Down syndrome.

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“…Several case reports have been published on CHD in dizygotic twins [16][17][18][19]; most of them include patients with chromosome aberration and no echocardiographic data. Limited data is available on CHD in a large group of dizygotic twins [20,21].…”

Section: Introductionmentioning

confidence: 99%

Congenital heart disease in a population of dizygotic twins: an echocardiographic study

Caputo

Russo

Capozzi

et al. 2005

International Journal of Cardiology

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Congenital heart defect in sibs with discordant karyotypes

Cited by 14 publications

References 30 publications

Familial recurrence of congenital heart disease: an overview and review of the literature

Familial recurrence of congenital heart disease: an overview and review of the literature

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Congenital heart disease in a population of dizygotic twins: an echocardiographic study

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