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Elucidating the genetics of spontaneous coronary artery dissection

Victor Chang Cardiac Research Institute & University of NSW

  • Cardiovascular Early-Mid Career Researcher Grant
Organ System:
  • Cardiovascular
Date Funded:
  • 22 May, 2020
Chief Investigator/s:
  • Associate Professor Eleni Giannoulatou

Project summary

Developing new quantitative and analytical approaches to improve identification of mutations that cause spontaneous coronary artery dissection.

What is the issue for NSW?

Spontaneous coronary artery dissection (SCAD) is an emergency condition that occurs when a tear forms in one of the blood vessels in the heart. If not diagnosed and treated quickly, it can cause heart attack or sudden death. SCAD predominantly affects young healthy women with no obvious risk factors, often when they have been in a vulnerable condition such as during pregnancy, postpartum or after physical or emotional stress.

To date, no obvious cause of this acute disease has been identified. As a result, patients do not currently receive optimal disease diagnosis and management.

However, increased awareness and recent advances in the screening of SCAD have facilitated the identification of multiple SCAD occurrences within families. This indicates that genetics may have a more significant role in the pathogenesis of SCAD than previously thought.

What does the research aim to do and how?

Associate /Professor Giannoulatou’s team of researchers and clinicians is currently leading the discovery of the genetic causes of SCAD by using the latest technologies to study the genetic code of SCAD patients and their families. They have shown that SCAD genetics is complex, and the disease cannot be attributed to the disruption of the same genes across different families. The team’s goal is limited by the current methodologies used to analyse such large genetic datasets to identify pathogenic mutations.

In this project, new quantitative and analytical approaches will be developed to improve their ability to identify mutations that are the cause of SCAD in every patient. To achieve a deeper understanding of the genetic architecture of SCAD, data sharing via international collaborations is essential. The team is building a network of SCAD cohorts globally and will leverage this data to validate and replicate their findings. This will allow them to make novel discoveries about the genetic aetiology of SCAD.

This research has immediate clinical benefit for the SCAD patients that have been recruited. Facilitating the genetic diagnosis of SCAD will help patients not only within NSW and across Australia, but also internationally, to receive an accurate diagnosis, personalised management and treatment, and genetic counselling concerning the disease risk in their family.

Identifying the genetic causes of SCAD has benefits not only for the patient and the family but also for the community. Currently, efforts to identify causes of disease are costly and can include multiple medical screens and procedures. The team expects that systematic adoption of genetic testing in clinical practise will improve the financial sustainability of the health system.