Searching for new gene mutations involved in the spasm of the large and small coronary arteries

Dr Jessica Marathe, University of Adelaide

Vanguard Grant - 1 Year

Years funded: 2025 - 2025

Advancing the understanding and management of coronary vasomotor disorders

Coronary vasomotor disorders manifest as recurrent chest pain due to abnormal constriction/relaxation of coronary microscopic vessels, and/or large coronary artery spasm.

These elusive disorders often afflict women disproportionally, and are best diagnosed via functional coronary angiography, where microvascular function is assessed by coronary blood flow/pressure studies, and large coronary artery spasm via a spasm-provoking agent. This conventional approach has defined the respective clinical syndromes of microvascular angina, and vasospastic angina. To date, the underlying genetic abnormalities that may contribute to the pathogenesis of these conditions remains poorly understood.

With evolving genomic technologies, the ability to study the underlying genetic basis of these interrelated conditions is becoming a reality, and taking this approach will help us:

1. categorise coronary vasomotor disorder subtypes, and
2. tailor and predict response to specific targeted treatments, so that therapy is personalised to the patients, making precision medicine a reality for this cohort of patients.

This project will utilise the clinical and biochemical data of an established cohort of 120 patients with a confirmed diagnosis of a coronary vasomotor disorder, with whole genome sequencing undertaken on stored DNA samples. A comprehensive bioinformatic analysis will be undertaken to identify potential new genetic markers/associations, thus advancing the understanding and management of these disorders.