Laterality of the aortic arch and anomalies of the subclavian artery?reliable indicators for 22q11.2 deletion syndromes?

Rauch, Ralf; Rauch, Anita; Koch, Andreas; Zink, Stefan; Kaulitz, Renate; Girisch, M.; Singer, H.; Hofbeck, Michael

doi:10.1007/s00431-004-1518-6

Cited by 42 publications

(55 citation statements)

References 23 publications

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“…This developmental pattern mirrors those observed in mouse models of this deletion syndrome [19, 25–27]. While DORV and TGA represent abnormalities of the outflow tracts and are thus classified as conotruncal lesions, an increasing body of evidence suggests that a subset of cases with DORV and TGA share a genetic basis with laterality disorders [28–31].…”

Section: Discussionsupporting

confidence: 59%

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

et al. 2013

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Background The 22q11.2 deletion syndrome is characterized by multiple congenital anomalies including conotruncal cardiac defects. Identifying the patient with a 22q11.2 deletion (22q11del) can be challenging because many extracardiac features become apparent later in life. We sought to better define the cardiac phenotype associated with a 22q11del to help direct genetic testing. Methods 1,610 patients with conotruncal defects were sequentially tested for a 22q11del. Counts and frequencies for primary lesions and cardiac features were tabulated for those with and without a 22q11del. Logistic regression models investigated cardiac features that predicted deletion status in tetralogy of Fallot (TOF). Results Deletion frequency varied by primary anatomic phenotype. Regardless of the cardiac diagnosis, a concurrent aortic arch anomaly (AAA) was strongly associated with deletion status (OR 5.07, 95% CI: 3.66–7.04). In the TOF subset, the strongest predictor of deletion status was an AAA (OR 3.14, 95% CI: 1.87–5.27, p <0.001), followed by pulmonary valve atresia (OR 2.03, 95% CI: 1.02–4.02, p= 0.04). Among those with double outlet right ventricle and transposition of the great arteries, only those with an AAA had a 22q11del. However, five percent of patients with an isolated conoventricular ventricular septal defect and normal aortic arch anatomy had a 22q11del, while no one with an IAA-A had a 22q11del. Conclusion A subset of patients with conotruncal defects are at risk for a 22q11del. A concurrent AAA increases the risk regardless of the intracardiac anatomy. These findings help direct genetic screening for the 22q11.2 deletion syndrome in the cardiac patient.

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Section: Discussionsupporting

confidence: 59%

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

et al. 2013

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“…The most frequent chromosomal anomaly is microdeletion of chromosome 22q11.2,2 5–7 which is more frequently found in cases of RAA with structural CHD, with reports suggesting up to 46% of cases being affected in a fetal and postnatal series 5 10. The prevalence of this chromosomal anomaly in cases of isolated RAA, however, varies between studies, from 8% reported in fetal series,5 to 20–25% in postnatal series 11 12. This association has led some authors to recommend karyotyping and screening for deletion of chromosome 22q11.2 in all fetuses with RAA, but particularly when associated with intracardiac anomalies or extracardiac malformations 1 5 10 13…”

Section: Introductionmentioning

confidence: 99%

Right aortic arch diagnosed antenatally: associations and outcome in 98 fetuses

Miranda

Callaghan

Miller

et al. 2013

Heart

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Detailed fetal extracardiac examination should be undertaken in all cases of RAA. Isolated RAA has a good prognosis, and in the majority of the patients it is an asymptomatic vascular variant with a relatively low risk for chromosomal anomaly. The prognosis of RAA with CHD depends on the complexity of the CHD and/or the associated extracardiac anomalies. In these cases, there is a higher risk for chromosomal anomaly, particularly 22q11.2 microdeletion.

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“…Although there was a trend towards higher ARSA incidence rates in cases with CHD, the figures did not reach significance (p < 0.072). Cytogenetic testing in cases with subclavian artery anomalies and conotruncal malformations was generally recommended by Rauch et al [16], because the combination increased the risk for 22q11 microdeletion, especially in the presence of a right aortic arch. In our cohort none of our cases with an ARSA was associated with a conotruncal anomaly.…”

mentioning

confidence: 99%

Fetal Aberrant Right Subclavian Artery (ARSA) – a Potential New Soft Marker in the Genetic Scan?

Willruth

Dwinger

Ritgen³

et al. 2011

Ultraschall in Med

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Laterality of the aortic arch and anomalies of the subclavian artery?reliable indicators for 22q11.2 deletion syndromes?

Cited by 42 publications

References 23 publications

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

Right aortic arch diagnosed antenatally: associations and outcome in 98 fetuses

Fetal Aberrant Right Subclavian Artery (ARSA) – a Potential New Soft Marker in the Genetic Scan?

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