Genetic test for early detection of high cardiovascular risk – 2024-05-02 01:49:30

Vienna (OTS) – Clonal hematopoiesis is a phenomenon caused by mutations in blood-forming stem cells and can lead to blood cancer. We now know that it also occurs in people with normal blood values ​​and is associated with an increased risk of life-threatening atherosclerotic cardiovascular diseases. A research team from Meduni Vienna has now developed a genetic test procedure to detect clonal hematopoiesis, the use of which, in combination with an ultrasound examination of the carotid artery, enables the identification of high-risk patients. The study was published in the Journal of the American College of Cardiology.

One of the most current topics in cardiovascular research is the role of clonal hematopoiesis in cardiovascular disease. Significant work in recent years has shown that clonal hematopoiesis is widespread and occurs as a process associated with aging in up to 15 percent of the population over 70 years of age. It does not necessarily lead to malignant blood diseases, but it greatly increases the risk of atherosclerotic cardiovascular diseases and thereby reduces life expectancy. Atherosclerosis in an advanced stage can lead to blockage of arterial blood vessels and thus cause heart attacks and strokes.

An interdisciplinary team from MedUni Vienna led by Christoph Binder, Robert Kralovics and Roland Jäger from the Clinical Institute of Laboratory Medicine and Matthias Hoke from the University Clinic for Internal Medicine II has now examined the potential effects of clonal hematopoiesis on patients with proven but asymptomatic atherosclerotic narrowing of the carotid artery (carotid stenosis). For this purpose, a special method based on high-throughput DNA sequencing was developed for the targeted testing of parts of the genetic material in order to identify causal mutations. This new method was used on around 1000 blood samples from the prospective ICARAS study (Inflammation and Carotid Artery-Risk for Atherosclerosis Study), a prospective cohort study that has been running since 2002 at the Department of Angiology at the University Clinic for Internal Medicine II, with the aim of risk factors for atherosclerosis or cardiovascular endpoints such as: B. to identify myocardial infarction or stroke, but also cardiovascular death.

Recognize increased risk before symptoms appear
The current study describes an increased death rate in patients with significant carotid stenosis and simultaneous clonal hematopoiesis. “The accurate design of the genetic test method enabled us to reliably identify the patients affected by clonal hematopoiesis,” says first author Roland Jäger. With the joint detection of clonal hematopesis and carotid atherosclerosis, it was possible to discover a combined biomarker for creating an individual cardiovascular risk profile. Early detection of high-risk patients is now possible, which means that therapy can be adjusted and the progression of atherosclerosis prevented and resulting strokes and heart attacks could be avoided. “With the help of ultrasound-based duplex sonography in combination with the new genetic testing method, a greatly increased cardiovascular risk can be determined long before symptoms of the disease appear,” explains co-first author Matthias Hoke. The study leaders Christoph Binder and Robert Kralovics emphasize that the result of the study represents the basis “for many future works in which the role of clonal hematopoiesis in cardiovascular diseases is to be investigated.” This is intended to facilitate the implementation of this form of genetic diagnostics be advanced in laboratory medicine.

Publikation: Journal of the American College of Cardiology
Combined effects of clonal hematopoiesis and degree of carotid stenosis on cardiovascular mortality;
Roland Jäger, Matthias Hoke, Florian J. Mayer, Stefanie Boden, Cornelia English, Cihan Ay, Robert Kralovics, Christoph J. Binder;
doi:10.1016/j.jacc.2024.02.043

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