Chromosomal abnormalities among children born with conotruncal cardiac defects

Lammer, Edward J.; Chak, Jacqueline S.; Iovannisci, David M.; Schultz, Kathleen; Osoegawa, Kazutoyo; Yang, Wei; Carmichael, Suzan L.; Shaw, Gary M.

doi:10.1002/bdra.20541

Cited by 60 publications

(52 citation statements)

References 34 publications

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“…But, as known from other data, there is a frequent association of conotruncal anomalies with chromosomal anomalies [11,23] . The overall survival in our series was 82%; 5/28 neonates died.…”

Section: Discussionmentioning

confidence: 99%

Fetal and Neonatal Diagnosis of Interrupted Aortic Arch: Associations and Outcomes

et al. 2011

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Objective: Interrupted aortic arch (IAA) is a rare but serious anomaly. Prenatal diagnosis is challenging and published data are limited. The aim of the study was to review the data of fetuses and neonates diagnosed with IAA during a 16-year period at Children’s Hospital Giessen. Methods: Retrospective ascertainment of 8 fetuses and 20 neonates with a confirmed diagnosis of IAA from 1994 to 2010 by reviewing the hospital database of the cardiovascular program of the prenatal and pediatric cardiology clinics at the University Hospital Giessen. Results: Eighteen cases with IAA type B and 10 cases with IAA type A were found. After 2005, prenatal diagnosis was achieved in 8 cases and postnatal imaging confirmed IAA in all 8 neonates. Twenty-nine percent of individuals had a chromosomal anomaly, with microdeletion 22q11.2 being the most common abnormality (n = 6, 21%). In 46% (13/28) other complex cardiac anomalies were present. Mortality after surgery was 18%. Long-term morbidity and mortality was due to neurological impairment in the presence of microdeletion 22q11.2 and the need of surgical or catheter re-intervention. Conclusion: Despite the difficulties and challenges in diagnosis, the prenatal detection rate of IAA is increasing. Associated complex cardiac and chromosomal abnormalities influence the outcome of patients with IAA and are important issues of parental counseling.

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Section: Discussionmentioning

confidence: 99%

Fetal and Neonatal Diagnosis of Interrupted Aortic Arch: Associations and Outcomes

et al. 2011

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“…Patients with TOF and 22q11.2DS more frequently have additional cardiovascular abnormalities, including right aortic arch, aberrant right subclavian artery and major aortopulmonary collateral arteries, than patients with TOF without a deletion 12 14 17 22. The postoperative morbidity and mortality of 22q11.2DS patients is higher than in other patients due to the presence of these associated cardiac anomalies as well as the extracardiac anomalies of the syndrome 12 14 23.…”

Section: Discussionmentioning

confidence: 99%

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia

Engelen

Töpf

Keavney

et al. 2010

Heart

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“…Velo-cardio-facial syndrome is the most common genetic cause of conotruncal heart anomalies (Lammer et al, 2009) and the most common genetic cause of cleft palate .…”

Section: Vcfs Overviewmentioning

confidence: 99%

Language and Literacy Development in Individuals With Velo-cardio-facial Syndrome

Antshel

Marrinan

Kates

et al. 2009

Topics in Language Disorders

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Velo-cardio-facial syndrome (VCFS) is a genetic disorder caused by a microdeletion of chromosome 22q11.2. Although there is some variability, VCFS is associated with a characteristic physical, behavioral, and cognitive phenotype. This review article focuses on aspects of language and literacy development in VCFS, describing what is known and offering avenues for future research. The most consistently reported language and literacy findings in the VCFS population include reading, spelling, phonological processing, and auditory verbal rote memory abilities as areas of relative strength. Receptive language abilities are noted to be relatively stronger than expressive language abilities in individuals with VCFS. Speech disorders are very common in VCFS, and the most common compensatory articulation substitution in VCFS is the glottal stop.

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Chromosomal abnormalities among children born with conotruncal cardiac defects

Abstract: BACKGROUND-Conotruncal heart defects comprise 25%-30% of non-syndromic congenital heart defects. This study describes the frequency of chromosome abnormalities and microdeletion 22q11 associated with conotruncal heart malformations.

Cited by 60 publications

References 34 publications

Fetal and Neonatal Diagnosis of Interrupted Aortic Arch: Associations and Outcomes

Fetal and Neonatal Diagnosis of Interrupted Aortic Arch: Associations and Outcomes

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia

Language and Literacy Development in Individuals With Velo-cardio-facial Syndrome

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