Evidence map›Paper›PMID 32518415›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020

Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon.

Sharon L Paige, Kirstie M Lechich, Elif Seda Selamet Tierney, R Thomas Collins

Abstract read
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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 15% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Echocardiographic Assessment in Patients with Vascular Ehlers-Danlos Syndrome: Insights from an Unexplored Field.High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension · 2025
    Article
  4. Review
  5. Hereditary Thoracic Aortic Diseases.Diagnostics (Basel, Switzerland) · 2024
    Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Recurrent Neural Networks to Automatically Identify Rare Disease Epidemiologic Studies from PubMed.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science
    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.

Sharon L PaigeDepartment of Pediatrics, Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA, USA. spaige@stanford.edu.ORCID http://orcid.org/0000-0001-6720-5957
Kirstie M LechichDepartment of Pediatrics, Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA, USA.
Elif Seda Selamet TierneyDepartment of Pediatrics, Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA, USA.
R Thomas CollinsDepartment of Pediatrics, Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA, USA.
Cardiovascular Institute of the South · USStanford University · US

Funding

Patient-Specific Induced Pluripotent Stem Cells for Modeling Single Ventricle Congenital Heart DiseaseK08HL148553 · NHLBI · STANFORD UNIVERSITY · PI PAIGE, SHARON LYNN · 2019 to 2020
$212k
NHLBI NIH HHS K08 HL148553
6 · The paper itself

Abstract

purposeCardiac-valvular and vascular Ehlers-Danlos syndrome (EDS) have significant cardiovascular issues. The prevalence and significance of such abnormalities in classical (cEDS) or hypermobile EDS (hEDS) remain unclear. We report the prevalence of cardiac abnormalities in patients with cEDS and hEDS.

methodsWe identified 532 pediatric patients with potential EDS evaluated at our institution from January 2014 through April 2019 by retrospective chart review. Ninety-five patients (12 cEDS and 83 hEDS patients) met 2017 EDS diagnostic criteria and had an echocardiogram. One patient was excluded due to complex congenital heart disease, and two were excluded due to lack of images. We reviewed echocardiograms for all structural abnormalities.

resultsOf these 95 patients, 1 had mild aortic root dilation, and 1 had mild ascending aorta dilation in the setting of a bicuspid aortic valve. Eleven patients (11.6%) had a cardiac valve abnormality, all of which were trivial to mild. None of the patients required cardiac intervention.

conclusionOur results demonstrate that aortic dilation and valvular anomalies are uncommon in cEDS or hEDS patients. Given the lack of evidence, we do not recommend echocardiographic evaluation and surveillance in patients with cEDS and hEDS in the absence of clinical findings or positive family history.

Indexed as

Aortic DiseasesEhlers-Danlos SyndromeChildEchocardiographyHumansPrevalenceRetrospective Studiesaortic dilationaortopathyconnective tissue disordersechocardiographyEhlers–Danlos syndrome

Identifiers

PMID32518415
OpenAlexW3034048937

What OpenQuestion holds

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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.