SynthesisJournal of the American Heart Association2018
Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Synthesis in Journal of the American Heart Association, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03861741 (A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases), which is not on this map. Cited by 34 papers, 4 of them syntheses that pooled 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.
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.
A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases: The ReST Study
Who cites it
34 citing papers in PubMed, 4 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.The Journal of thoracic and cardiovascular surgery · 2023Guideline
- Guideline
- 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.Journal of the American College of Cardiology · 2022Guideline
- Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.Journal of the American Heart Association · 2018Pooled it
- Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.Journal of the American Heart Association · 2022Trial
- Article
- Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation.European journal of human genetics : EJHG · 2026Article
- Aortic Root Enlargement in a Young Athlete.JACC. Case reports · 2026Article
- Co-produced evidence-based recommendations for cascade screening and secondary prevention in the relatives of people diagnosed with non-syndromic thoracic aortic disease.Frontiers in cardiovascular medicine · 2026Article
- Embryological Divergence and Molecular Mechanisms in Thoracic and Abdominal Aortic Aneurysms: Bridging Developmental Biology and Clinical Insights.Biomolecules · 2025Review
- Massively parallel assay of human splice variants reveals cis-regulatory drivers of disease-associated and cell type-specific splicing regulation.bioRxiv : the preprint server for biology · 2025Article
- The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Medical sciences (Basel, Switzerland) · 2025Review
- Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection.medRxiv : the preprint server for health sciences · 2025Article
- Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.Annals of medicine and surgery (2012) · 2025Review
- Article
- Article
- Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder.International journal of molecular sciences · 2024Article
- Diagnosis and treatment of cardiovascular disease in patients with heritable connective tissue disorders or heritable thoracic aortic diseases.Cardiovascular intervention and therapeutics · 2024Review
- Current understanding of the genetics of thoracic aortic disease.Vessel plus · 2024Article
- Nonsize Criteria for Surgical Intervention on the Ascending Thoracic Aorta.Aorta (Stamford, Conn.) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Background Nonsyndromic thoracic aortic diseases ( NS - TADs ) are often silent entities until they present as life-threatening emergencies. Despite familial inheritance being common, screening is not the current standard of care in NS - TAD s. We sought to determine the incidence of aortic diseases, the predictive accuracy of available screening tests, and the effectiveness of screening programs in relatives of patients affected by NS - TADs . Methods and Results A systematic literature search on PubMed/ MEDLINE , Embase, and the Cochrane Library was conducted from inception to the end of December 2017. The search was supplemented with the Online Mendelian Inheritance in Man database. A total of 53 studies were included, and a total of 2696 NS - TAD relatives were screened. Screening was genetic in 49% of studies, followed by imaging techniques in 11% and a combination of the 2 in 40%. Newly affected individuals were identified in 33%, 24%, and 15% of first-, second-, and third-degree relatives, respectively. Familial NS - TAD s were primarily attributed to single-gene mutations, expressed in an autosomal dominant pattern with incomplete penetrance. Specific gene mutations were observed in 25% of the screened families. Disease subtype and genetic mutations stratified patients with respect to age of presentation, aneurysmal location, and aortic diameter before dissection. Relatives of patients with sporadic NS - TAD s were also found to be affected. No studies evaluated the predictive accuracy of imaging or genetic screening tests, or the clinical or cost-effectiveness of an NS - TAD screening program. Conclusions First- and second-degree relatives of patients affected by both familial and sporadic NS - TAD s may benefit from personalized screening programs.
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What OpenQuestion holds
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.