Evidence map›Paper›PMID 27297344›Full record

ReviewCirculation2016

Hereditary Influence in Thoracic Aortic Aneurysm and Dissection.

Eric M Isselbacher, Christian Lacks Lino Cardenas, Mark E Lindsay

Registry-linked trialOpen access · bronzeAbstract readReview
In one paragraph

Review in Circulation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06783803 (Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms), which is not on this map. Cited by 137 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
137citing papers in PubMed, 1 pooled it
15.6field-weighted citation impact, top 1% 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.

NCT06783803 active not recruitingnot on this mapstarted 2024, after this paper: background citation

Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms

Typeobservational_patient_registrySponsorIRCCS Policlinico S. DonatoRan2024 to 2029Enrolled20ConditionsFamilial Thoracic Aortic Aneurysm and Aortic DissectionArmsLinkage Analysis
3 · Its place in the literature

Who cites it

137 citing papers in PubMed, 1 synthesis or guideline pooled it, 254 citations in OpenAlex.

  1. Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Genetic Causes of Thoracic Aortic Aneurysm: A Review.Methodist DeBakey cardiovascular journal · 2026
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Copy number loss Of APP cause thoracic aortic dissection.Hypertension research : official journal of the Japanese Society of Hypertension · 2025
    Article
  15. Genetic Variants in the Extracellular Matrix GeneInternational journal of molecular sciences · 2025
    Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Article

77 more citing papers are in PubMed but not listed here.

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

3 authors at 1 institution in 2 countries.

Eric M IsselbacherFrom Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts General Hospital, Harvard Medical School, Boston.
Christian Lacks Lino CardenasFrom Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts General Hospital, Harvard Medical School, Boston.
Mark E LindsayFrom Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts General Hospital, Harvard Medical School, Boston. Lindsay.Mark@mgh.harvard.edu.
MACOM (United States) · US

Funding

The Role of HDAC9/MITR in the Pathogenesis of Thoracic Aortic Aneurysm (TAA)R01HL130113 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI LINDSAY, MARK E · 2016 to 2020
$2.0M
American Heart Association-American Stroke AssociationNHLBI NIH HHS R01 HL130113
6 · The paper itself

Abstract

Thoracic aortic aneurysm is a potentially life-threatening condition in that it places patients at risk for aortic dissection or rupture. However, our modern understanding of the pathogenesis of thoracic aortic aneurysm is quite limited. A genetic predisposition to thoracic aortic aneurysm has been established, and gene discovery in affected families has identified several major categories of gene alterations. The first involves mutations in genes encoding various components of the transforming growth factor beta (TGF-β) signaling cascade (FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3 and SKI), and these conditions are known collectively as the TGF-β vasculopathies. The second set of genes encode components of the smooth muscle contractile apparatus (ACTA2, MYH11, MYLK, and PRKG1), a group called the smooth muscle contraction vasculopathies. Mechanistic hypotheses based on these discoveries have shaped rational therapies, some of which are under clinical evaluation. This review discusses published data on genes involved in thoracic aortic aneurysm and attempts to explain divergent hypotheses of aneurysm origin.

Indexed as

Aortic Aneurysm, ThoracicAortic DissectionGenetic Predisposition to DiseaseHumansRisk Factorsaortaaortic diseaseMarfan syndrome

Identifiers

PMID27297344
PMCPMC5031368
OpenAlexW2430187835

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.