New genetic test could detect early signs of heart disease

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Researchers at the Medical University of Vienna have made a significant advance in understanding how a condition known as clonal hematopoiesis can influence the risk of developing cardiovascular diseases, such as heart attacks and strokes.

Clonal hematopoiesis involves mutations in blood stem cells and is known to increase the risk of blood cancer.

Interestingly, it also occurs in people with normal blood counts, where it significantly raises the likelihood of atherosclerotic cardiovascular disease—a condition where arteries are narrowed due to plaque buildup.

This new study, detailed in the Journal of the American College of Cardiology, introduces a cutting-edge genetic testing procedure combined with ultrasound examination of the carotid artery.

This method helps identify patients who are at high risk of cardiovascular events, which is pivotal for early intervention.

The concept of clonal hematopoiesis as a factor in cardiovascular disease is a key area of interest among cardiovascular researchers. It has been found that clonal hematopoiesis is relatively common, especially in older adults, appearing in up to 15% of individuals over 70.

While it can lead to malignant blood diseases, its role in sharply reducing life expectancy by escalating the risk for atherosclerotic cardiovascular disease is particularly alarming.

Advanced atherosclerosis can cause critical blockages in arterial blood vessels, leading to severe outcomes like heart attacks and strokes.

An interdisciplinary team at the Medical University of Vienna, including Christoph Binder, Robert Kralovics, Roland Jäger from the Clinical Institute of Laboratory Medicine, and Matthias Hoke from the Department of Internal Medicine II, focused their research on patients with proven, yet symptom-free, carotid stenosis—a narrowing of the carotid arteries due to atherosclerosis.

Their approach utilized a novel assay based on high-throughput DNA sequencing to perform targeted genetic testing. This testing aimed to identify mutations that cause clonal hematopoiesis.

The team analyzed about 1,000 blood samples from the ICARAS study (Inflammation and Carotid Artery-Risk for Atherosclerosis Study), a long-term research project started in 2002 to pinpoint risk factors for atherosclerosis and predict cardiovascular outcomes like heart attacks, strokes, and related deaths.

The findings from this study highlighted a significantly increased mortality rate among patients who had both carotid stenosis and clonal hematopoiesis.

Roland Jäger, the lead author of the study, noted, “The targeted design of the genetic testing procedure enabled us to reliably identify patients affected by clonal hematopoiesis.”

By detecting both clonal hematopoiesis and carotid atherosclerosis, researchers could establish a combined biomarker. This biomarker can significantly enhance the assessment of an individual’s cardiovascular risk profile.

Identifying high-risk patients early allows healthcare providers to tailor treatments and preventive measures more effectively, aiming to slow the progression of atherosclerotic disease and reduce the incidence of life-threatening cardiovascular events.

Matthias Hoke elaborated on the methodology, explaining, “With the help of ultrasound-based duplex sonography combined with the new genetic testing procedure, we can detect elevated cardiovascular risks long before any disease symptoms appear.”

The study’s corresponding authors, Christoph Binder and Robert Kralovics, believe these results lay the groundwork for further research into the role of clonal hematopoiesis in cardiovascular diseases.

Their goal is to integrate this type of genetic diagnostics into routine laboratory medicine, potentially transforming how cardiovascular risks are managed and treated.

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The research findings can be found in the Journal of the American College of Cardiology.

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