Evidence map›Paper›PMID 27550231›Full record

ReviewJournal of genetic counseling2016

Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling.

Samantha L Freeze, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm

Abstract readReview
In one paragraph

Review in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
5.6field-weighted citation impact, top 4% 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

23 citing papers in PubMed, 61 citations in OpenAlex.

  1. Article
  2. Bicuspid Aortic Valve and Sudden Cardiac Death.Life (Basel, Switzerland) · 2025
    Review
  3. Review
  4. Article
  5. Review
  6. Human Genetics of Semilunar Valve and Aortic Arch Anomalies.Advances in experimental medicine and biology · 2024
    Review
  7. Navigating the challenges of bicuspid aortic valve-aortopathy.Global cardiology science & practice · 2023
    Review
  8. Review
  9. The Natural History of Bicuspid Aortic Valve Disease.Structural heart : the journal of the Heart Team · 2023
    Review
  10. Point on the Aortic Bicuspid Valve.Life (Basel, Switzerland) · 2022
    Review
  11. Review
  12. Review
  13. Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy.International journal of molecular sciences · 2021
    Review
  14. Article
  15. Thoracic aortic aneurysm: unlocking the "silent killer" secrets.General thoracic and cardiovascular surgery · 2019
    Review
  16. Sudden cardiac death and valvular pathology.Forensic sciences research · 2019
    Article
  17. Article
  18. Vascular Genetics: Presentations, Testing, and Prognostics.Current treatment options in cardiovascular medicine · 2018
    Review
  19. Article
  20. Review
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 4 institutions in 1 country.

Samantha L FreezeDepartment of Pediatrics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, Indianapolis, IN, USA.
Benjamin J LandisDepartment of Pediatrics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, Indianapolis, IN, USA.
Stephanie M WareDepartment of Pediatrics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, Indianapolis, IN, USA.
Benjamin M HelmDepartment of Medical & Molecular Genetics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, 975 West Walnut Street, IB-130, Indianapolis, IN, 46202, USA. bmhelm@iu.edu.
Indiana University Health · USIndiana University – Purdue University Indianapolis · USIndiana University School of MedicineRiley Hospital for Children · US

Funding

Indiana Pediatric Scientist Award(IPSA)K12HD068371 · NICHD · INDIANA UNIVERSITY INDIANAPOLIS · PI CLAPP, DAVID W · 2013 to 2017
$1.9M
NICHD NIH HHS K12 HD068371
6 · The paper itself

Abstract

Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV. This review describes current knowledge of BAV and associated aortopathy and provides guidance to genetic counselors involved in the care of patients and families with these malformations. The heritability of BAV and recommendations for screening are highlighted. While this review focuses specifically on BAV, the principles are applicable to counseling needs for other LVOTO defects.

Indexed as

Genetic CounselingPractice Guidelines as TopicAortic ValveBicuspid Aortic Valve DiseaseFemaleHeart Defects, CongenitalHeart Valve DiseasesHumansMaleAortic aneurysmAortic dissectionCongenital heart defectGenetic counselingLeft ventricular outflow tract obstructionLVOTO

Identifiers

PMID27550231
PMCPMC5141520
OpenAlexW2513314482

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.