Identifying the cause of mysterious heart disease in women

SCAD (spontaneous coronary artery dissection) is a relatively unknown cause of myocardial infarction. It is a dangerous disorder that mainly affects women in which a tear forms in one of the blood channels of the heart, resulting in a heart attack. It is not known how much SCAD differs genetically from other cardiovascular disorders, such as atherosclerotic coronary artery disease (CAD).

Researchers from UNSW Sydney and the Victor Chang Cardiac Research Institute work together to shed light on the leading cause of heart attacks in women under 50.

Many SCAD patients are generally fit and healthy. Unlike classic heart attacks, SCAD doesn’t come with plaque buildup and artery blockage. Until recently, little was known about this condition.

A global effort led by Joint Associate Professor Eleni Giannoulatou, Professor Robert Graham and Professor Jason Kovacic aims to identify the origin of the disease and accelerate preventive treatments.

They published their findings in Nature Genetics, showing that at least 16 genes are linked to SCAD, with one gene called PHACTR1 possibly being an important driver.

They showed that genes involved in making SCAD are primarily involved in forming the matrix or scaffold around cells that develop coronary arteries, as well as a gene involved in blood clotting, after analyzing data from nearly 2,000 individuals.

This clotting factor deficiency is thought to increase the likelihood of spontaneous bleeding into the artery wall, which reduces blood flow as it expands and leads to a heart attack.

Prof Eleni Gionnulatou, who, together with Prof Graham and Prof Kovacic, led the Australian arm of the study, said: “We have conducted the largest study to date aimed at understanding the genetic basis of SCAD, uncovering multiple genetic regions that confer susceptibility to SCAD.”

The Australian arm of the study was led by Eleni Gionnulatou, Prof. Graham and Prof. Kovacic, who found that people who develop SCAD have subtle genetic changes that affect their blood vessels, putting them at a higher risk of a catastrophic injury or of spontaneous bleeding involving the walls of the heart arteries.

They now have a much better understanding of the genetic risk of SCAD and its relationship to other cardiovascular disorders. Understanding these pathways should translate into new approaches to management and treatment.

Scientists are studying the PHACTR1 gene, which has one of the strongest genetic associations with SCAD.

The professor. Kovacic said: “SCAD is still a relatively little-understood disease, but it has a huge impact and is responsible for a quarter of all heart attacks in women under 50. We urgently need to learn more about this disease and find out what’s causing it.” causing”.

He added, “Not only can this disease be life-threatening, but it can come back without warning in some patients.”

The researchers are the first outside the United States to join the iSCAD Registry, a global collaboration of researchers and patients studying the characteristics and pathogenesis of SCAD.

The iSCAD registry contains the medical histories of 1271 SCAD patients, all previously from the United States. Patients in Australia will soon be able to donate their data to help shed more light on this disease.

Magazine reference:

  1. Adlam, D., Berrandou, T., Georges, A., et al. Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation. Genetics of nature. DOI: 10.1038/s41588-023-01410-1

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