Evidence map›Paper›PMID 12947506›Full record

ArticlePediatric cardiology

Chromosome 22q11 deletion in patients with truncus arteriosus.

D B McElhinney, D A Driscoll, B S Emanuel, E Goldmuntz

Abstract read
PubMed Publisher
In one paragraph

Article in Pediatric cardiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
0.7field-weighted citation impact, top 33% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 72 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Persistent truncus arteriosus on dual source CT.Japanese journal of radiology · 2016
    Review
  10. Article
  11. New aspects of anesthetic management in congenital heart disease "common arterial trunk".Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2014
    Review
  12. Article
  13. Truncus arteriosus: A major cause of proteinuria in children.Journal of cardiovascular disease research · 2011
    Article
  14. Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2010
    Article
  15. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

D B McElhinneyDivision of Cardiology, The Children's Hospital of Philadelphia, 3516 Civic Center Boulevard, Philadelphia, PA 19104-4318, USA.
D A Driscoll
B S Emanuel
E Goldmuntz
Children's Hospital of Philadelphia · USUniversity of Pennsylvania · US

Funding

VELOCARDIOFACIAL SYNDROME--MOLECULAR &CLINICAL STUDIESP01DC002027 · NIDCD · CHILDREN'S HOSPITAL OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 1994 to 2003
$6.4M
SUSCEPTIBLE GENES FOR CONOTRUNCAL CARDIAC DEFECTSP50HL062177 · NHLBI · CHILDREN'S HOSPITAL OF PHILADELPHIA · PI SPINNER, NANCY BETTINA · 1999 to 2003
$6.0M
NHLBI NIH HHS P50 HL62177NIDCD NIH HHS DC02027
6 · The paper itself

Abstract

The association between truncus arteriosus and chromosome 22q11 deletion is well recognized, but the frequency of a chromosome 22q11 deletion has not been characterized in a large series of patients with truncus arteriosus, and little is known about cardiovascular morphologic features associated with a chromosome 22q11 deletion in this group of patients. We prospectively enrolled 50 consecutive patients with truncus arteriosus who were admitted to The Children's Hospital of Philadelphia between November 1991 and December 2001. Patients were studied for chromosome 22q11 deletion using fluorescence in situ hybridization. Correlations between anatomic features and chromosome 22q11 deletion were assessed. A chromosome 22q11 deletion was detected in 20 of the 50 patients (40%). Anatomic features that were significantly associated with a chromosome 22q11 deletion included a right-sided aortic arch, an abnormal aortic arch branching pattern, both abnormal sidedness and branching of the aortic arch, and the combined category of either abnormal sidedness or branching of the aortic arch. There was a trend toward the association of discontinuous pulmonary arteries with a chromosome 22q11 deletion. Interruption of the aortic arch and truncal valve morphology and function did not correlate significantly with the presence of a chromosome 22q11 deletion. In conclusion, a chromosome 22q11 deletion is common in patients with truncus arteriosus, and those with abnormal sidedness and/or branching of the aortic arch are significantly more likely to have a deletion. Clinically important anatomic variables, such as abnormalities of the truncal valve and interrupted aortic arch, were not associated with a chromosome 22q11 deletion in this series.

Indexed as

Chromosome DeletionChromosomes, Human, Pair 22ChildChi-Square DistributionFemaleHumansMalePhenotypeProspective StudiesTruncus Arteriosus, Persistent

Identifiers

PMID12947506
OpenAlexW2040940449

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.