Overview
This patient information day brought together experts and patients focused on Spontaneous Coronary Artery Dissection (SCAD) and Fibromuscular Dysplasia (FMD) to discuss advances in research, clinical care, genetics, imaging, patient experience, and psychosocial support, with an emphasis on collaboration and community.
Welcome and Introduction
- Acknowledgement of traditional landowners and inclusivity of all patients.
- SCAD and FMD have overlapping features but remain distinct; low risk of developing the other condition if you have one.
- First joint patient info day for both FMD and SCAD communities.
History and Advocacy for FMD and SCAD
- FMDSA (Fibromuscular Dysplasia Society of America) was established to address gaps in knowledge and support.
- International collaborations and registries have expanded, improving awareness and diagnosis.
- FMDSA's efforts include education, research funding, patient registries, and global resource sharing.
Genetics of FMD and SCAD
- Both rare and common genetic variants influence susceptibility to FMD/SCAD.
- 90% of SCAD/FMD cases are in women, often around age 50.
- Polygenic risk scores show associations with migraine, reduced risk of atherosclerosis, and familial clustering.
- Genetic testing is considered for recurrent dissections, strong family history, or syndromic features, but most cases are sporadic with complex inheritance.
- Variants in certain connective tissue disorder genes (e.g., COL3A1) are found in a minority of cases.
SCAD: Clinical and Imaging Insights
- SCAD presents as heart attack due to arterial wall bleeding; predominantly affects women.
- Triggers include emotional/physical stress, pregnancy, and strenuous exercise.
- Best management involves careful use of blood thinners, beta blockers for some, blood pressure control, and tailored rehabilitation.
- Imaging study shows SCAD-affected arteries have smaller diameters, more curvature, and variable wall shear stress, supporting recommendations to avoid heavy lifting and maintain good blood pressure control.
Genetics Research: Methodology and Progress
- DNA is collected from patients, sequenced, and analyzed using high-powered computing to identify significant variants.
- SCAD is genetically complex—most do not have a single causative gene; common variants and rare pathogenic mutations both contribute.
- Polygenic risk is present in everyone; carrying risk does not make disease inevitable.
Functional Analysis of the Factor 1 Gene
- Factor 1 gene is implicated in both SCAD and FMD (when overexpressed), and in atherosclerosis when underexpressed.
- Research uses cell models and multi-omics to determine how different variants of factor 1 influence disease biology.
- Goal: Identify cell-specific, druggable pathways related to these genetic differences.
Psychosocial Impacts and Support
- SCAD and FMD cause significant shock, fear of recurrence, uncertainty, and changes in identity and capacity.
- FMD patients often report higher distress and challenges, particularly regarding reduced capacity and healthcare system support.
- An online SCAD-specific support program reduced distress and increased fulfillment; such support is vital and under development for broader access.
Action Items
- TBD – Organizers: Expand psychosocial support programs to include FMD and non-cardiac dissection patients.
- TBD – Research Teams: Continue SCAD/FMD specific rehab guideline development and dissemination.
- TBD – Research Teams: Complete and publish ongoing studies on SCAD genetics, imaging, and beta blocker trials.
- TBD – FMDSA & Partners: Share international resources and enable patient connections worldwide.
- TBD – All Attendees: Engage with ongoing registry studies and advocacy groups for updates and support.
Questions / Follow-Ups
- Need for dedicated SCAD/FMD information in all cardiac rehab programs.
- Ongoing research into environmental factors, alcohol risk, and optimal medication strategies.
- More data required on recurrence rates by gender and familial risk quantification.