ReviewNature reviews. Disease primers2021
Marfan syndrome.
Review in Nature reviews. Disease primers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT07495267 (Nutritional Ketosis as a Novel Therapeutic Strategy to Stabilize Chronic Aortic Dissection in Marfan Syndrome), which is not on this map. Cited by 170 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.
Nutritional Ketosis as a Novel Therapeutic Strategy to Stabilize Chronic Aortic Dissection in Marfan Syndrome
Who cites it
170 citing papers in PubMed, 1 synthesis or guideline pooled it, 266 citations in OpenAlex.
- Combined Bentall and Modified Ravitch Procedures: A Case Report and Systematic Review of the Evidence.Medicina (Kaunas, Lithuania) · 2022Pooled it
- A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.Orphanet journal of rare diseases · 2026Trial
- Online Personal Training in Patients With Marfan Syndrome: A Randomized Controlled Study of Its Impact on Quality of Life and Physical Capacity.Journal of the American Heart Association · 2024Trial
- Computational multiscale analysis of growth and remodeling in the ascending aorta of the Marfan mouse.Biomechanics and modeling in mechanobiology · 2026Article
- Introducing Allopurinol to the Medical Treatment of Marfan Syndrome: Advantages, Limitations, and Potential Extension to other Aortopathies.Cardiovascular drugs and therapy · 2026Review
- TRPV4 is Associated with a Marfan Syndrome-Related Mechanosensitive Gene Program in Aortic Smooth Muscle Cells.Biochemical genetics · 2026Article
- Novel findings of corneal neural features in FBN1-related marfan syndrome.International ophthalmology · 2026Article
- Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy.Journal of veterinary internal medicine · 2026Article
- The aorta in Marfan syndrome: from molecular mechanisms to mechanobiological dysfunction.Cardiovascular research · 2026Review
- Idiopathic Intracranial Hypertension in a Child with Marfan Syndrome: Clinical, Neuroimaging, and Biomarker Findings from a Case Report.Life (Basel, Switzerland) · 2026Article
- Lymphatic therapies open the valve in Marfan syndrome.The Journal of clinical investigation · 2026Article
- Hypertension drives thoracic aortic aneurysm and dissection in male, but not female, Marfan mice.Journal of the mechanical behavior of biomedical materials · 2026Article
- FBN1 Variant of Uncertain Significance in a Patient With a Marfan Spectrum Phenotype: A Case Report.Cureus · 2026Article
- A Preliminary Zebrafish Model ofGenes · 2026Article
- Growth arrest of thoracic aortic aneurysms in aging Marfan mice.American journal of physiology. Heart and circulatory physiology · 2026Article
- Latent Vasculopathy of a Peripheral Pulmonary Artery in FBN1-Related Marfan Syndrome.Pathology international · 2026Article
- Integrated Single-Cell and Spatial Analysis Reveals a Metabolic-Immune Axis Driving Aortic Dissection.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Angiotensin II Induces Abdominal Aortic Branch Aneurysms inArteriosclerosis, thrombosis, and vascular biology · 2026Article
- Aortic asprosin overexpression does not ameliorate disease pathophysiology in a murine model of Marfan syndrome.Scientific reports · 2026Article
- A novel truncating FBN1 variant in a family with Marfan syndrome.Human genome variation · 2026Article
110 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 8 institutions in 4 countries.
Funding
Abstract
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. MFS is caused by pathogenetic variants in FBN1, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries, the pericondrium and structures in the eye. Up to 25% of individuals with MFS have de novo variants. The most prominent manifestations of MFS are asymptomatic aortic root aneurysms, aortic dissections, dislocation of the ocular lens (ectopia lentis) and skeletal abnormalities that are characterized by overgrowth of the long bones. MFS is diagnosed based on the Ghent II nosology; genetic testing confirming the presence of a FBN1 pathogenetic variant is not always required for diagnosis but can help distinguish MFS from other heritable thoracic aortic disease syndromes that can present with skeletal features similar to those in MFS. Untreated aortic root aneurysms can progress to life-threatening acute aortic dissections. Management of MFS requires medical therapy to slow the rate of growth of aneurysms and decrease the risk of dissection. Routine surveillance with imaging techniques such as transthoracic echocardiography, CT or MRI is necessary to monitor aneurysm growth and determine when to perform prophylactic repair surgery to prevent an acute aortic dissection.
Indexed as
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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.