Physiotherapy Review
en POLSKI
eISSN: 2719-9665
ISSN: 2719-5139
Physiotherapy Review
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
3/2025
vol. 29
 
Share:
Share:
Research paper

Symptoms assessment and the physiotherapy role in Marfan syndrome patients

Weronika Opszalska
1
,
Maja Czader
1
,
Joanna Wałecka
2
,
Marta Jokiel
1, 3

  1. Physiotherapy Department, Poznan University of Medical Sciences, Poznan, Polan
  2. Orthopedic Biomechanics Research Laboratory, Mayo Clinic, Rochester, Minnesota, United States
  3. Traumatology, Orthopedics and Hand Surgery Department, Poznan University of Medical Sciences, Poznan, Poland
Research, Physiotherapy Review, 2025, 29(3), 35-46
Online publish date: 2025/09/25
Article file
- art4_3_2025.pdf  [0.24 MB]
Get citation
 
PlumX metrics:
 
1. Salik I, Rawla P. Marfan syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 [cited 2023 Feb 6]. Available from: https:// europepmc.org/article/nbk/nbk537339
2. Chiu HH. An update of medical care in Marfan syndrome. Tzu Chi Med J. 2022; 34(1): 44–48.
3. Chiu HH, Wu MH, Chen HC, Kao FY, Huang SK. Epidemiological profile of Marfan syndrome in a general population: A national database study. Mayo Clin Proc. 2014; 89(1): 34–42.
4. Andersen NH, Groth KA, Berglund A, Gravholt CH, Kjeldsen S, Andersen N, et al. Ocular morbidity in Marfan syndrome: A nationwide epidemiological study. Br J Ophthalmol. 2022; 106(12): 1564–1568.
5. Roman MJ, Devereux RB. Aortic dissection risk in Marfan syndrome. J Am Coll Cardiol. 2020; 75(8): 854–856
6. Muthu ML, Reinhardt DP. Fibrillin 1 and fibrillin 1 derived asprosin in adipose tissue function and metabolic disorders. J Cell Commun Signal. 2020; 14(2): 159–173.
7. Asano K, Cantalupo A, Sedes L, Ramirez F. The multiple functions of fibrillin 1 microfibrils in organismal physiology. Int J Mol Sci. 2022; 23(3): 1–24.
8. Zeigler SM, Sloan B, Jones JA. The pathophysiology and pathogenesis of Marfan syndrome. Adv Exp Med Biol. 2021; 1348: 185–206.
9. Al Kaissi A, Zwettler E, Ganger R, Schreiner S, Klaushofer K, Grill F. Musculo skeletal abnormalities in patients with Marfan syndrome. Clin Med Insights Arthritis Musculoskelet Disord. 2013; 6: 1–9.
10. Pollock L, Ridout A, Teh J, Nnadi C, Stavroulias D, Pitcher A, et al. The musculoskeletal manifestations of Marfan syndrome: Diagnosis, impact, and management. Curr Rheumatol Rep. 2021; 23(11): 81.
11. Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL. Differences in manifestations of Marfan syndrome, Ehlers Danlos syndrome, and Loeys Dietz syndrome. Ann Cardiothorac Surg. 2017; 6(6): 582–594.
12. Rodríguez Romo R, Orrantia Vertiz M, Barragán Garfias J, Rojas García G, Rodríguez Álvarez A, Carbonell Bobadilla N. Síndrome de hipermovilidad articular. Acta Ortop Mex. 2020; 34(6): 441–449.
13. Zou H, Waalkes P. Joint hypermobility as a potential indicator of Marfan syndrome and Ehlers Danlos syndrome. Cureus. 2022; 14(8): e27574.
14. Galletti C, Camps Font O, Teixidó Turà G, Llobet Poal I, Gay Escoda C. Association between Marfan syndrome and oral health status: A systematic review and meta analysis. Med Oral Patol Oral Cir Bucal. 2019; 24(4): e473–e482.
15. Sinha A, Kaur S, Raheel SA, Kaur K, Alshehri M, Kujan O. Oral manifestations of a rare variant of Marfan syndrome. Clin Case Rep. 2017; 5(9): 1429–1434.
16. Lazea C, Bucerzan S, Crisan M, Al Khzouz C, Miclea D, Șufană C, et al. Cardiovascular manifestations in Marfan syndrome. Med Pharm Rep. 2021; 94(1): 25–27.
17. Coelho SG, Almeida AG. Marfan syndrome revisited: From genetics to the clinic. Rev Port Cardiol (Engl Ed). 2020; 39(4): 215–226.
18. Isekame Y, Gati S, Aragon Martin JA, Bastiaenen R, Kondapally Seshasai SR, Child A. Cardiovascular management of adults with Marfan syndrome. Eur Cardiol Rev. 2016; 11(2): 102–110.
19. Rysz J, Gluba Brzózka A, Rokicki R, Franczyk B. Oxidative stress related susceptibility to aneurysm in Marfan’s syndrome. Biomedicines. 2021; 9(9): 1002.
20. Milewicz DM, Ramirez F. Therapies for thoracic aortic aneurysms and acute aortic dissections: Old controversies and new opportunities. Arterioscler Thromb Vasc Biol. 2019; 39(2): 126–136.
21. Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo Zahrah R, et al. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015; 167(4): 831–836.
22. Thakur S, Jhobta A, Sharma B, Chauhan A, Thakur CS. Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia. Asian J Surg. 2017; 40(4): 313–316.A, Sedes L, Ramirez F. Pathophysiology and therapeutics of thoracic aortic aneurysm in Marfan syndrome. Biomolecules. 2022; 12(1): 1–17,
23. Tun MH, Borg B, Godfrey M, Hadley Miller N, Chan ED. Respiratory manifestations of Marfan syndrome: A narrative review. J Thorac Dis. 2021; 13(10): 6012–6025.
24. Otremski H, Widmann RF, Di Maio MF, Ovadia D. The correlation between spinal and chest wall deformities and pulmonary function in Marfan syndrome. J Child Orthop. 2020; 14(4): 343–348.
25. von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, et al. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet. 2015; 8: 137–155.
26. Becerra Muñoz VM, Gómez Doblas JJ, Porras Martín C, Such Martínez M, Crespo Leiro MG, Barriales Villa R, et al. The importance of genotype phenotype correlation in the clinical management of Marfan syndrome. Orphanet J Rare Dis. 2018; 13(1): 16.
27. Child AH, Neumann L, Robinson PN. Diagnosis and treatment of Marfan syndrome—a summary. In: Marfan Syndrome: A Primer for Clinicians and Scientists. New York: Springer US; 2014. p. 13–23.
28. Child AH. Non-cardiac manifestations of Marfan syndrome. Ann Cardiothorac Surg. 2017; 6(6): 599– 609.
29. Li J, Zhao M, Yao Z, Zhang X, Guo D, Zhao X, et al. Intraoperative hypotension during surgical treatment for Marfan syndrome scoliosis in children. J Child Orthop. 2022; 16(5): 416–423.
30. Vanem TT, Rand-Hendriksen S, Brunborg C, Geiran OR, Røe C. Health-related quality of life in Marfan syndrome: A 10-year follow-up. Health Qual Life Outcomes. 2020; 18(1): 376.
31. Handisides JC, Hollenbeck-Pringle D, Uzark K, Trachtenberg FL, Pemberton VL, Atz TW, et al. Health-related quality of life in children and young adults with Marfan syndrome. J Pediatr. 2019; 204: 250–255.e1.
32. Andonian C, Freilinger S, Achenbach S, Ewert P, Gundlach U, Kaemmerer H, et al. Quality of life in patients with Marfan syndrome: A cross-sectional study of 102 adult patients. Cardiovasc Diagn Ther. 2021; 11(2): 602–610.
33. Goldfinger JZ, Preiss LR, Hendershot TP, Kroner BL, Devereux RB, Roman MJ, et al. Marfan syndrome and quality of life in the GenTAC Registry. J Am Coll Cardiol. 2017; 69(23): 2821–2830.
34. Trawicka A, Lewandowska-Walter A, Majkowicz M, Sabiniewicz R, Woźniak-Mielczarek L. Health-related quality of life of patients with Marfan syndrome—Polish study. Int J Environ Res Public Health. 2022; 19(11): 6284.
35. Jouini S, Ludivine E, Guillaume J, Vitiello D. Is physical activity a future therapy for patients with Marfan syndrome? Orphanet J Rare Dis. 2022; 17(1): 46.
36. Benninghoven D, Hamann D, von Kodolitsch Y, Rybczynski M, Lechinger J, Schroeder F, et al. Inpatient rehabilitation for adult patients with Marfan syndrome: An observational pilot study. Orphanet J Rare Dis. 2017; 12(1): 127.
37. Giske L, Stanghelle JK, Rand-Hendriksen S, Strøm V, Wilhelmsen JE, Røe C. Pulmonary function, working capacity and strength in young adults with Marfan syndrome. J Rehabil Med. 2003; 35(5): 221–228

Quick links
© 2025 Termedia Sp. z o.o.
Developed by Bentus.