Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Apr;11(2):602-610.
doi: 10.21037/cdt-20-692.

Quality of life in patients with Marfan syndrome: a cross-sectional study of 102 adult patients

Caroline Andonian  1   2   3 , Sebastian Freilinger  1 , Stefan Achenbach  4 , Peter Ewert  1 , Ulrike Gundlach  4 , Harald Kaemmerer  1 , Nicole Nagdyman  1 , Rhoia Clara Neidenbach  1 , Lars Pieper  5 , Jörg Schelling  6 , Michael Weyand  4 , Jürgen Beckmann  2   7   8
Affiliations

Quality of life in patients with Marfan syndrome: a cross-sectional study of 102 adult patients

Caroline Andonian et al. Cardiovasc Diagn Ther. 2021 Apr.

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.

Keywords: EQ-5D; Marfan syndrome (MFS); prevention; psychological situation; quality of life.

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/cdt-20-692). The series “Current Management Aspects in Adult Congenital Heart Disease (ACHD): Part III” was commissioned by the editorial office without any funding or sponsorship. HK serves as an unpaid editorial board member of Cardiovascular Diagnosis and Therapy from Feb 2018 to Jan 2022 and served as the unpaid Guest Editor of the series. The authors have no other conflicts of interest to declare.

Figures

Figure 1
Figure 1
EQ-5D-5L values in the Marfan syndrome patients vs. the ACHD comparison group. Each dimension consists of 5 levels: no problems, slight problems, moderate problems, severe problems and extreme problems. Average values were calculated for all dimensions and accordingly depicted. ACHD, adults with congenital heart defects.
See this image and copyright information in PMC

References

    1. von Kodolitsch Y, De Backer J, et al. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet 2015;8:137. 10.2147/TACG.S60472 - DOI - PMC - PubMed
    1. Cañadas V, Vilacosta I, Bruna I, et al. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol 2010;7:256. 10.1038/nrcardio.2010.30 - DOI - PubMed
    1. Ratiu I, Virden TB, Baylow H, et al. Executive function and quality of life in individuals with Marfan syndrome. Qual Life Res 2018;27:2057-65. 10.1007/s11136-018-1859-7 - DOI - PubMed
    1. Nielsen C, Ratiu I, Esfandiarei M, et al. A review of psychosocial factors of Marfan Syndrome: adolescents, adults, families, and providers. J Pediatr Genet 2019;8:109-22. 10.1055/s-0039-1693663 - DOI - PMC - PubMed
    1. Kaemmerer H, Oechslin E, Seidel H, et al. Marfan syndrome: what internists and pediatric or adult cardiologists need to know. Expert Rev Cardiovasc Ther 2005;3:891-909. 10.1586/14779072.3.5.891 - DOI - PubMed

LinkOut - more resources