Evidence map›Paper›PMID 25561045›Full record

ArticleCirculation. Cardiovascular genetics2015

22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot.

Laura Mercer-Rosa, Stephen M Paridon, Mark A Fogel, Jack Rychik, Ronn E Tanel, Huaqing Zhao, Xuemei Zhang, Wei Yang, Justine Shults, Elizabeth Goldmuntz

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Cardiovascular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
4.6field-weighted citation impact, top 5% 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

28 citing papers in PubMed, 58 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Genetic variants of HIF1α are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2019
    Article
  15. Article
  16. Article
  17. Article
  18. Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.American journal of medical genetics. Part A · 2018
    Review
  19. Review
  20. 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

10 authors at 3 institutions in 1 country.

Laura Mercer-RosaFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Stephen M ParidonFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Mark A FogelFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Jack RychikFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Ronn E TanelFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Huaqing ZhaoFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Xuemei ZhangFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Wei YangFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Justine ShultsFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).
Elizabeth GoldmuntzFrom the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.). goldmuntz@email.chop.edu.
Temple University · USChildren's Hospital of Philadelphia · USUniversity of Pennsylvania · US

Funding

Institutional Clinical and Translational Science AwardUL1TR000003 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2012 to 2015
$38.9M
Molecular Analysis of Human Subtelomeric RearrangementsP50HL074731 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI LEVY, ROBERT J · 2004 to 2008
$19.2M
Training in Molecular Therapeutics for Pediatric CardiologyT32HL007915 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI Robert J Levy, JOSEPH W ROSSANO · 1999 to 2026
$13.4M
NCATS NIH HHS UL1 TR000003NCATS NIH HHS UL1TR000003NHLBI NIH HHS 5T32HL007915NHLBI NIH HHS P50 HL074731NHLBI NIH HHS P50-HL74731NHLBI NIH HHS T32 HL007915
6 · The paper itself

Abstract

backgroundPatients with repaired tetralogy of Fallot experience variable outcomes for reasons that are incompletely understood. We hypothesize that genetic variants contribute to this variability. We sought to investigate the association of 22q11.2 deletion status with clinical outcome in patients with repaired tetralogy of Fallot. METHODS AND

resultsWe performed a cross-sectional study of tetralogy of Fallot subjects who were tested for 22q11.2 deletion, and underwent cardiac magnetic resonance, exercise stress test, and review of medical history. We studied 165 subjects (12.3±3.1 years), of which 30 (18%) had 22q11.2 deletion syndrome (22q11.2DS). Overall, by cardiac magnetic resonance the right ventricular ejection fraction was 60±8%, pulmonary regurgitant fraction was 34±17%, and right ventricular end-diastolic volume was 114±39 cc/m(2). On exercise stress test, maximum oxygen consumption was 76±16% predicted. Despite comparable right ventricular function and pulmonary regurgitant fraction, on exercise stress test the 22q11.2DS had significantly lower percent predicted: forced vital capacity (61.5±16 versus 80.5±14; P<0.0001), maximum oxygen consumption (61±17 versus 80±12; P<0.0001), and work (64±18 versus 86±22, P=0.0002). Similarly, the 22q11.2DS experienced more hospitalizations (6.5 [5-10] versus 3 [2-5]; P<0.0001), saw more specialists (3.5 [2-9] versus 0 [0-12]; P<0.0001), and used ≥1 medications (67% versus 34%; P<0.001).

conclusions22q11.2DS is associated with restrictive lung disease, worse aerobic capacity, and increased morbidity, and may explain some of the clinical variability seen in tetralogy of Fallot. These findings may provide avenues for intervention to improve outcomes, and should be re-evaluated longitudinally because these associations may become more pronounced with time.

Indexed as

Chromosome DeletionTetralogy of FallotAdolescentChildChromosomes, Human, Pair 22Cross-Sectional StudiesFemaleHumansMagnetic Resonance ImagingMaleRadiographyechocardiographyexercise testgeneticsmagnetic resonance imagingtetralogy of Fallot

Identifiers

PMID25561045
PMCPMC4383312
OpenAlexW2148112190

What OpenQuestion holds

Textmetadata
LicenceTDM
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.