Quality of Life in Patients with Marfan Syndrome: a Cross-sectional Study of 102 Adult Patients

Overview

Journal Cardiovasc Diagn Ther

Publisher AME Publishing Company

Specialty Cardiology & Vascular Diseases

Date 2021 May 10

PMID 33968637

Citations 6

Authors

Caroline Andonian

Sebastian Freilinger

Stefan Achenbach

Peter Ewert

Ulrike Gundlach

Harald Kaemmerer

Nicole Nagdyman

Rhoia Clara Neidenbach

Lars Pieper

Jorg Schelling

Michael Weyand

Jurgen Beckmann

Affiliations

Soon will be listed here.

Abstract

Background: Marfan syndrome (MFS) is a genetically determined multiorgan disease that leads to severe physiological and psychological impairments in adult life. Little consensus exists regarding quality of life (QOL) in individuals with MFS. The present study sought to investigate QOL in a representative cohort of adults with MFS.

Methods: Patient-reported outcome measures from a representative sample of 102 adults with MFS (39.3±13.1 years of age; 40.2% female) were retrospectively analyzed and compared with those from adults with different congenital heart defects (CHD), at the German Heart Center Munich. QOL was assessed using the updated five-level version of the EQ-5D.

Results: Differences between both populations were analyzed. Subjects affected by MFS reported an overall reduced QOL. Compared to CHD patients, individuals with MFS scored significantly lower in the dimensions of pain/discomfort, anxiety/depression, mobility and usual activities (P<0.05).

Conclusions: Patients with MFS are at high risk for impaired QOL, especially in mental and physical domains. Psychosocial consequences of MFS cost resources for both, patients and professionals. Current findings highlight the great importance of additional psychological support to cope with disease-related challenges. Increased attention should be directed towards enhancing their subjective wellbeing to potentially improve their QOL and long-term health outcomes.

Citing Articles

Cerebral microvascular density, blood-brain barrier permeability, and support for neuroinflammation indicate early aging in a Marfan syndrome mouse model.

Curry-Koski T, Curtin L, Esfandiarei M, Thomas T Front Physiol. 2025; 15:1457034.

PMID: 39959812 PMC: 11825817. DOI: 10.3389/fphys.2024.1457034.

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis.

Jenabzadeh T, Bohner L, Koppe J, Kleinheinz J, Hanisch M, Oelerich O Head Face Med. 2024; 20(1):26.

PMID: 38659050 PMC: 11040890. DOI: 10.1186/s13005-024-00427-z.

In vivo phenotypic vascular dysfunction extends beyond the aorta in a mouse model for fibrillin-1 (Fbn1) mutation.

Curry T, Barrameda M, Thomas T, Esfandiarei M Sci Rep. 2024; 14(1):5779.

PMID: 38461168 PMC: 10924961. DOI: 10.1038/s41598-024-56438-y.

Quality of life in young patients with acute type a aortic dissection in China: comparison with Marfan syndrome and non-Marfan syndrome.

Lin X, Xie L, Zhang Z, He J, Xie Y, Dai X BMC Cardiovasc Disord. 2024; 24(1):132.

PMID: 38424531 PMC: 10905939. DOI: 10.1186/s12872-024-03740-2.

Discussing psychological and psychotherapeutic support for patients with Marfan syndrome (MFS) and their family: an example of a structured program in Italy.

Panetta M, Bianchetti A, Udugampolage N, Taurino J, Caruso R, Pini A Front Psychol. 2023; 14:1176692.

PMID: 37397303 PMC: 10307951. DOI: 10.3389/fpsyg.2023.1176692.

References

Helder M, Schaff H, Lahr B, Miller D, Connolly H . Quality of Life of Patients With Marfan Syndrome After Valve-Sparing or Valve-Replacement Operations. Mayo Clin Proc. 2019; 94(9):1906-1909. DOI: 10.1016/j.mayocp.2019.04.045. View

Rand-Hendriksen S, Johansen H, Semb S, Geiran O, Stanghelle J, Finset A . Health-related quality of life in Marfan syndrome: a cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis. Genet Med. 2010; 12(8):517-24. DOI: 10.1097/GIM.0b013e3181ea4c1c. View

Park J, Tahk S, Bae S . Depression and anxiety as predictors of recurrent cardiac events 12 months after percutaneous coronary interventions. J Cardiovasc Nurs. 2014; 30(4):351-9. DOI: 10.1097/JCN.0000000000000143. View

Peters K, Kong F, Horne R, Francomano C, Biesecker B . Living with Marfan syndrome I. Perceptions of the condition. Clin Genet. 2001; 60(4):273-82. DOI: 10.1034/j.1399-0004.2001.600405.x. View

Herdman M, Gudex C, Lloyd A, Janssen M, Kind P, Parkin D . Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Qual Life Res. 2011; 20(10):1727-36. PMC: 3220807. DOI: 10.1007/s11136-011-9903-x. View

Gritti A, Pisano S, Catone G, Iuliano R, Salvati T, Gritti P . Psychiatric and neuropsychological issues in Marfan syndrome: A critical review of the literature. Int J Psychiatry Med. 2015; 50(4):347-60. DOI: 10.1177/0091217415612701. View

Moons P, van Deyk K, Budts W, de Geest S . Caliber of quality-of-life assessments in congenital heart disease: a plea for more conceptual and methodological rigor. Arch Pediatr Adolesc Med. 2004; 158(11):1062-9. DOI: 10.1001/archpedi.158.11.1062. View

Bertilsson M, Petersson E, Ostlund G, Waern M, Hensing G . Capacity to work while depressed and anxious--a phenomenological study. Disabil Rehabil. 2013; 35(20):1705-11. DOI: 10.3109/09638288.2012.751135. View

Handisides J, Hollenbeck-Pringle D, Uzark K, Trachtenberg F, Pemberton V, Atz T . Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome. J Pediatr. 2018; 204:250-255.e1. PMC: 6800200. DOI: 10.1016/j.jpeds.2018.08.061. View

10.

Nelson A, Walega D, McCarthy R . The Incidence and Severity of Physical Pain Symptoms in Marfan Syndrome: A Survey of 993 Patients. Clin J Pain. 2015; 31(12):1080-6. DOI: 10.1097/AJP.0000000000000202. View

11.

Rao S, Venuti K, Dietz 3rd H, Sponseller P . Quantifying Health Status and Function in Marfan Syndrome. J Surg Orthop Adv. 2016; 25(1):34-40. View

12.

Watkins L, Koch G, Sherwood A, Blumenthal J, Davidson J, OConnor C . Association of anxiety and depression with all-cause mortality in individuals with coronary heart disease. J Am Heart Assoc. 2013; 2(2):e000068. PMC: 3647264. DOI: 10.1161/JAHA.112.000068. View

13.

Hansen L, von Kodolitsch Y, Schroeder F, Benninghoven D . Body Image in Patients with Marfan Syndrome. J Clin Med. 2020; 9(4). PMC: 7230675. DOI: 10.3390/jcm9041015. View

14.

Hunter A, Swan L . Quality of life in adults living with congenital heart disease: beyond morbidity and mortality. J Thorac Dis. 2017; 8(12):E1632-E1636. PMC: 5227241. DOI: 10.21037/jtd.2016.12.16. View

15.

Peters K, Apse K, Blackford A, McHugh B, Michalic D, Biesecker B . Living with Marfan syndrome: coping with stigma. Clin Genet. 2005; 68(1):6-14. DOI: 10.1111/j.1399-0004.2005.00446.x. View

16.

Schoormans D, Radonic T, de Witte P, Groenink M, Azim D, Lutter R . Mental quality of life is related to a cytokine genetic pathway. PLoS One. 2012; 7(9):e45126. PMC: 3458023. DOI: 10.1371/journal.pone.0045126. View

17.

Bathen T, Velvin G, Rand-Hendriksen S, Robinson H . Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet A. 2014; 164A(8):1931-9. DOI: 10.1002/ajmg.a.36574. View

18.

Peters K, Kong F, Hanslo M, Biesecker B . Living with Marfan syndrome III. Quality of life and reproductive planning. Clin Genet. 2002; 62(2):110-20. DOI: 10.1034/j.1399-0004.2002.620203.x. View

19.

Moons P, van Deyk K, De Bleser L, Marquet K, Raes E, de Geest S . Quality of life and health status in adults with congenital heart disease: a direct comparison with healthy counterparts. Eur J Cardiovasc Prev Rehabil. 2006; 13(3):407-13. DOI: 10.1097/01.hjr.0000221864.19415.a0. View

20.

Speed T, Mathur V, Hand M, Christensen B, Sponseller P, Williams K . Characterization of pain, disability, and psychological burden in Marfan syndrome. Am J Med Genet A. 2016; 173(2):315-323. PMC: 6059361. DOI: 10.1002/ajmg.a.38051. View