Research update and recently published papers

Round-up of SCAD and FMD research

The research team at Leicester continues to search for answers for SCAD patients. Dr Alice Wood has been looking at men with SCAD and recurrent SCAD and is currently anlaysing her data and writing up her thesis, so we look forward to hearing more about that in due course.

Dr Ania Baranowski is completing validation experiments for her proteomics findings as part of her PhD. This is a study of proteins and looks at blood plasma to identify which proteins are present in SCAD patients’ blood.

Beat SCAD has funded some of Dr Wood and Dr Baranowski’s work, so thanks to all those who have raised money enabling us to support the research.

This year has seen some interesting research papers published, including:

Differential miRNAs in acute spontaneous coronary artery dissection: Pathophysiological insights from a potential biomarker, a collaboration between researchers in Leicester and Spain.

A blood test for SCAD would improve the accuracy (and hopefully speed) of diagnosis and might reduce the need for invasive angiograms in some cases. Dr David Adlam, Associate Professor of Acute and Interventional Cardiology at University of Leicester & Honorary Consultant Interventional Cardiologist at University Hospitals Leicester and lead SCAD researcher, explained: “Working with our Spanish partners we have looked at blood samples taken from patients presenting at the time of SCAD to try to find a blood marker or combination of blood markers which might help provided a diagnostic marker for SCAD. We identify a signatures of tiny fragments of RNA (called micro-RNA) which show reasonably good predictive power in SCAD when compared to non-SCAD heart attacks. This is a very promising start and suggests this kind of approach may be useful. We now need to work hard to collect more samples from acute patients (these are rare and precious samples as most of our blood samples come from patients many months after their SCAD events). We can then validate and optimise this approach.”

Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia. This paper continues the work in understanding the genetic landscape of SCAD and FMD.

Rare genetic mutations of the PTGIR gene seem to be associated with FMD (Fibromuscular Dysplasia) and in rare cases with SCAD.

Dr Adlam said: “With the gene sequencing work published last year, we are starting to build a clearer understanding that a very small number of patients with SCAD have rare genetic disorders. Most of these are associated with other known conditions (adult polycystic kidney disease, Vascular Ehlers Danlos, Loeys Dietz syndrome). Other patients have a particular combination of common genes which increase their risk of SCAD (and migraine) but reduce their risk of atherosclerotic disease (the common cause of heart attacks).”

You can watch Dr Adlam explain the gene sequencing findings here

Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia

An international working group, including Dr Adlam’s team, have produced this review of what is understood about the underlying causes of FMD. A section on the links with SCAD has been included.

Dr Adlam
Dr David Adlam