ReviewCurrent rheumatology reports2021
The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.
Review in Current rheumatology reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Combined Bentall and Modified Ravitch Procedures: A Case Report and Systematic Review of the Evidence.Medicina (Kaunas, Lithuania) · 2022Pooled it
- Efficacy and safety of atrial fibrillation ablation in patients with Marfan syndrome: A multicenter analysis.Heart rhythm O2 · 2026Article
- Article
- Marfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report.International journal of clinical pediatric dentistry · 2026Article
- Mitochondrial dysfunction in aortic aneurysm and dissection: mechanisms and therapeutic implications.Frontiers in pharmacology · 2026Review
- Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management.Cureus · 2025Review
- The superficial transverse metacarpal ligament and the interdigital web. A proof-of-concept study based on palpation, ultrasonography, casts, and dissection.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2025Article
- Intraoperative Neurophysiological Monitoring in Patients With Marfan Syndrome Scoliosis.Orthopaedic surgery · 2025Article
- Article
- Refractive Alterations in Marfan Syndrome: A Narrative Review.Medicina (Kaunas, Lithuania) · 2025Review
- Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.Drug design, development and therapy · 2025Review
- Perspectives from the 2024 International Consortium for Spinal Genetics, Development and Disease (ICSGDD).Genetics in medicine open · 2025Article
- A novel missense variant ofFrontiers in pediatrics · 2025Article
- Genetic Disorders in Pediatric Rheumatology Clinic: When to Suspect, and Why?Indian journal of pediatrics · 2024Review
- Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.Advances in rheumatology (London, England) · 2024Review
- Article
- Uncovering the Hidden World of Aqueous Humor Proteins for Discovery of Biomarkers for Marfan Syndrome.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Marfan syndrome in a Ghanaian male: The diagnostic challenges.Clinical case reports · 2024Article
- Marfan syndrome: insights from animal models.Frontiers in genetics · 2024Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewMarfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5-10,000 (Chiu et al. Mayo Clin Proc. 89(1):34-42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476-85, 4). RECENT
findingsThe vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgical intervention, have reduced the risk of life-threatening cardiovascular events, such as aortic dissection. Although cardiovascular morbidity and mortality remains high, these improvements in cardiovascular management have extended the life expectancy of those with MFS by perhaps 30-50 years from an estimated mean of 32 years in 1972 (Dietz 3, Gott et al. Eur J Cardio-thoracic Surg. 10(3):149-58, 147, Murdoch et al. N Engl J Med. 286(15):804-8, 148). The musculoskeletal manifestations of MFS, which to date have received less attention, can also have a significant impact on the quality of life and are likely to become more important as the age of the Marfan syndrome population increases (Hasan et al. Int J Clin Pract. 61(8):1308-1320, 127). In addition, musculoskeletal manifestations are often critically important in the diagnosis of MFS. Here, we review the main clinically relevant and diagnostically useful musculoskeletal features of MFS, which together contribute to the "systemic features score" (referred to hereafter as systemic score), part of the revised Ghent nosology for MFS. We discuss current treatment strategies and highlight the need for a multidisciplinary approach to diagnosis and management. Finally, we review new pharmacological approaches that may be disease modifying and could help to improve the outcome for individuals with this syndrome.
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