Living With Marfans and Your Aorta: Surgical Outcomes Study

NCT04776681 | Completed DMC

• 1 other identifier: 293099
• Study Type: observational
• Target: 28
• Locations: 1 country
• Sites: 1

Brief Summary

Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Living with a diagnosis of Marfan Syndrome, including undergoing and recovering from heart surgery, affects patients' mental health, well-being and quality of life in ways that are not well understood. This study will address the current knowledge gaps in this area and will provide the information needed to design interventions to help improve the MFS patients' mental health, well-being and quality of life after heart surgery. The study will include adult MFS patients who are undergoing aorto-vascular surgery. The overall aim of the study is to explore the psychosocial and health-related quality of life (HRQoL) effects of the surgical interventions for aorto-vascular manifestations of MFS in 3 large UK cardiac centres. To achieve this, the researchers will ask the potential participants, after obtaining informed consent, to complete a series of accepted / validated questionnaires to measure the health-related quality of life (SF-36 and EQ5D questionnaire) and psychosocial factors such as depression (CES-D questionnaire), fatigue (Fatigue Severity Scale), stigma (Perceived Stigma Questionnaire), self-esteem (Rosenberg Self-esteem Scale), pain and illness perception (Illness Perception Questionnaire). Participants will be asked to complete the questionnaires before surgery and at various time points after surgery (at 6 weeks after hospital discharge and at 6 and 12 months after surgery). The research team will also collect in-hospital post-operative morbidity burden following aorto-vascular surgery using cardiac post-operative morbidity score (C-POMS) tool from the patients and clinical records. The association of C-POMS with psychosocial and HRQoL outcomes will also be examined.

Conditions

Marfan Syndrome; Marfan Syndrome Cardiovascular Manifestations

Outcome Measures

Primary Outcomes (2)

• Change from Baseline Health-related Quality of Life (HRQoL)

  HRQoL will be measured using the Short Form Health Survey 36 (SF-36). SF-36 consists of 8 sub-scales. All scales do contribute in different proportions to the scoring of the physical and mental dimensions, represented by the Physical Component Summary (PCS) and Mental Component Summary (MCS). Using an algorithm, raw scores can be converted to a transformed scale scores ranging from 0-100, with higher score indicating a better health state.

  before surgery, 6 weeks after hospital discharge, 6 months and 12 months after surgery

• Change from Baseline Health-related Quality of Life (HRQoL)

  HRQoL will be measured using EQ-5D. EQ-5D is divided into 2 components: health care description and evaluation. In the description part, summation of score ranges from 1 to 3; with 1 indicates the best health state and 3 indicates more severe or frequent problem. The evaluation part utilises a visual analogue scale to indicate the general health status with 100 indicating the best health status and 0 indicating the worst health status.

  before surgery, 6 weeks after hospital discharge, 6 months and 12 months after surgery

Secondary Outcomes (6)

• Change from baseline psychosocial factor: depression

  before surgery, 6 weeks after hospital discharge, 6 months and 12 months after surgery

• Change from baseline psychosocial factor: fatigue

  before surgery, 6 weeks after hospital discharge, 6 months and 12 months after surgery

• Change from baseline psychosocial factor: stigma

  before surgery, 6 weeks after hospital discharge, 6 months and 12 months after surgery

• Change from baseline psychosocial factor: self esteem

  before surgery, 6 weeks after hospital discharge, 6 months and 12 months after surgery

• Change from baseline psychosocial factors: pain and illness perception

  before surgery, 6 weeks after hospital discharge, 6 months and 12 months after surgery

Eligibility Criteria

• Age: 18 Years - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All eligible consecutive patients with a diagnosis of MFS at three large UK cardiac centres will be identified prior to surgery, either through pre-operative outpatient clinic or via the clinical team.

You may qualify if:

• \>/= 18 years old at the time of surgery;
• have validated diagnosis of MFS (using revised Ghent criteria);
• having aorto-vascular surgery

You may not qualify if:

• \<18years old at the time of surgery
• Unable or unwilling to give written informed consent.
• Inability to understand written and/or verbal English

Sponsors & Collaborators

• Barts & The London NHS Trust: lead
• Aortic Dissection Awareness UK & Ireland.: collaborator
• Liverpool Heart and Chest Hospital NHS Foundation Trust: collaborator

Study Sites (1)

St Bartholomews Hospital

London, EC1A 7BE, United Kingdom

Location

MeSH Terms

Conditions

Marfan Syndrome

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 18, 2021
• First Posted: March 2, 2021
• Study Start: July 26, 2021
• Primary Completion: December 30, 2025
• Study Completion: December 31, 2025
• Last Updated: February 20, 2026

Record last verified: 2026-02

Locations

GB (1)