ReviewNature reviews. Cardiology2017
Aetiology and management of hereditary aortopathy.
Review in Nature reviews. Cardiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06257004 (Genome-wide Epistasis for Cardiovascular Severity in Marfan Study), which is not on this map. Cited by 58 papers, 1 of them a synthesis 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.
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 110 citations in OpenAlex.
- Thoracic Aortic Aneurysm Growth Rates and Predicting Factors: A Systematic Review and Meta-Analysis.Journal of the American Heart Association · 2025Pooled 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
- Screening and investigating the regulatory mechanisms of oxidative stress-related biomarkers in thoracic aortic aneurysms.Journal of applied genetics · 2026Article
- Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease.Interdisciplinary cardiovascular and thoracic surgery · 2026Article
- Ferroptosis of smooth muscle cells in vascular diseases: from basic principles to clinical translation.Cell death discovery · 2026Review
- A Computational Pipeline for Patient-Specific Modeling of Thoracic Aortic Aneurysm: From Medical Image to Finite Element Analysis.Proceedings of SPIE--the International Society for Optical Engineering · 2026Article
- Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.medRxiv : the preprint server for health sciences · 2025Article
- Generation of induced pluripotent stem cell lines from patients with thoracic aortic aneurysm carrying the ACTA2 gene mutation.Stem cell research · 2025Article
- Expression patterns and clinical relevance of H19, miR-181a-3p, and TGF-β in ascending aortic aneurysms: a comparative analysis of human aortic tissue.Molecular biology reports · 2025Article
- Thoracic aortic aneurysm.Nature reviews. Disease primers · 2025Review
- Predicting Thoracic Aortic Dissection in a Diverse Biobank Using a Polygenic Risk Score.JACC. Advances · 2025Article
- Mechanisms of aortic dissection: From pathological changes to experimental andProgress in materials science · 2025Article
- Mitochondrial NADNature cardiovascular research · 2025Article
- Correcting mitochondrial loss mitigates NOTCH1-related aortopathy in mice.Nature cardiovascular research · 2025Article
- Novel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases.Thrombosis and haemostasis · 2025Article
- Rapid and accurate multi-phenotype imputation for millions of individuals.Nature communications · 2025Article
- Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.Frontiers in cell and developmental biology · 2025Review
- Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.Diseases (Basel, Switzerland) · 2024Review
- Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway.Science China. Life sciences · 2024Article
- Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.Human molecular genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aortic aneurysms are a major health problem because they account for 1-2% of all deaths in the Western population. Although abdominal aortic aneurysms (AAAs) are more prevalent than thoracic aortic aneurysms (TAAs), TAAs have been more exhaustively studied over the past 2 decades because they have a higher heritability and affect younger individuals. Gene identification in both syndromic and nonsyndromic TAA is proceeding at a rapid pace and has already pinpointed >20 genes associated with familial TAA risk. Whereas these genes explain <30% of all cases of familial TAA, their functional characterization has substantially improved our knowledge of the underlying pathological mechanisms. As such, perturbed extracellular matrix homeostasis, transforming growth factor-β signalling, and vascular smooth muscle cell contractility have been proposed as important processes in TAA pathogenesis. These new insights enable novel treatment options that are currently being investigated in large clinical trials. Moreover, together with the advent of next-generation sequencing approaches, these genetic findings are promoting a shift in the management of patients with TAA by enabling gene-tailored interventions. In this Review, we comprehensively describe the molecular landscape of familial TAA, and we discuss whether familial TAA, from a biological point of view, can serve as a paradigm for the genetically more complex forms of the condition, such as sporadic TAA or AAA.
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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.