New Genetic Testing Procedure Combined With Ultrasound Detects High Cardiovascular Risk

A key interest area in cardiovascular research today is the impact of clonal hematopoiesis on cardiovascular diseases. Clonal hematopoiesis results from mutations in hematopoietic stem cells and may lead to blood cancers. Interestingly, it is also present in individuals with normal blood counts, where it is linked with a heightened risk of severe atherosclerotic cardiovascular disease. Studies have shown that clonal hematopoiesis becomes more common with age, being detectable in up to 15% of individuals over 70. While it can progress to malignant blood diseases, its significant impact is the reduction in life expectancy due to an increased risk of atherosclerotic cardiovascular disease, which at its advanced stage, can cause heart attacks and strokes due to arterial blockages.

Now, a research team at the Medical University of Vienna (Vienna, Austria) has designed a genetic testing method for detecting clonal hematopoiesis. Combined with an ultrasound examination of the carotid artery, this testing approach can identify individuals at high risk for cardiovascular disease. For their research, the team focused on the impact of clonal hematopoiesis on patients with asymptomatic, verified carotid stenosis—a narrowing of the carotid artery due to atherosclerosis. They developed a novel assay employing high-throughput DNA sequencing for targeted genetic testing to detect mutations that cause clonal hematopoiesis. This testing method was applied to around 1,000 blood samples from the ICARAS study (Inflammation and Carotid Artery-Risk for Atherosclerosis Study).

The study revealed a significant increase in mortality among patients who have both carotid stenosis and clonal hematopoiesis. The joint detection of clonal hematopoiesis and carotid atherosclerosis led to the identification of a new combined biomarker that enhances the personalization of cardiovascular risk profiles. This allows for the early identification of high-risk patients, which in turn facilitates the timely adjustment of treatment plans and the prevention of the progression of atherosclerotic diseases, thereby reducing the incidence of strokes and heart attacks.

By utilizing ultrasound-based duplex sonography along with this innovative genetic testing, elevated cardiovascular risk can now be detected well before any symptoms of the disease appear. According to the researchers, “the results of this study provide the basis for future studies to investigate the role of clonal haematopoiesis in cardiovascular diseases", with the goal of implementing such genetic diagnostics in laboratory medicine.

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