From Lived Experiences to Systemic Change: Patient Perspectives on the Diagnostic Journey of Loeys-Dietz Syndrome

Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue disorder characterized by early-onset aortic aneurysms and dissections, making early diagnosis crucial for patients' survival. Due to its rarity and overlap with other conditions, LDS is often challenging to diagnose. This study explored the diagnostic experiences of Canadians with LDS to identify perceived barriers, supports, and patient-informed gaps for improving diagnosis and care.

In-depth semi-structured interviews were conducted with 9 adults across Canada who were the first in their family to receive a confirmed diagnosis of LDS. Transcripts were generated, reviewed for accuracy, de-identified, and analyzed thematically using an inductive approach with iterative coding and team-based consensus around themes.

Five themes emerged: (i) patient role-individuals demonstrated self-advocacy and persistence; (ii) clinician role-clinicians acted as either catalysts or constraints; (iii) system role-healthcare was perceived as reactive and unequal, with limited consistency; (iv) impact of diagnosis-receiving a diagnosis of LDS brought clarity but also emotional challenges; and (v) patient-identified gaps-participants recognized challenges and emphasized enhanced education, proactive detection, ongoing support, and centralized care pathways to improve the diagnostic journey.

The timeliness and accuracy of LDS diagnosis are shaped by interactions among patient persistence, clinician awareness, and coordination, with delays driven by limited knowledge, fragmented care, and system barriers, despite the life-threatening risk involved. Patients identified gaps in clinician awareness, diagnostic pathways, psychosocial support, and care coordination. These findings emphasize cardiologists' central role in integrated multidisciplinary cardiology-genetics models to improve timely care and recognition of rare cardiovascular conditions.