Genetic Prevention for Cardiovascular Diseases

Module PRV02

Cardiovascular diseases are the most common cause of death in Germany (figure 1) and worldwide. Genetic factors can also play a role here, which can explain familial cumulation. To actively take preventive measures or mitigate the course of the disease, it can be a great advantage to recognize changes in the risk genes early in time.

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Causes of death by type of disease in Germany in 2022

Figure 1: Causes of death by type of disease in Germany in 2022 (modified).1

What Are Cardiovascular Diseases?

Our cardiovascular system is essential as it supplies all body cells with oxygen and nutrients and removes waste from the cell metabolism. If this system no longer works, the body is significantly impaired. This can lead to a massively reduced quality of life. 17.9 million people, or 32% of deaths worldwide each year, are caused by cardiovascular diseases. Risk factors can include age, lifestyle and genetic factors (figure 2).

Risk factors for cardiovascular diseases

Figure 2: Risk factors cardiovascular disease.

Disease-causing (pathogenic) genetic changes can cause mechanical dysfunctions of the heart muscle (e.g. cardiomyopathies). They can also lead to impairment of the ion channels in the heart. The ion channels are responsible for the transmission of electric signals, triggering the contraction of the heart. Malfunctions can lead to cardiac arrhythmia. Genetic changes can therefore also increase the risk of sudden cardiac death. Pathogenic changes in other genes included in the Disease Prevention Panel can cause a disorder in the structure of blood vessels. This can lead to pathological dilation, splitting of the vessel wall layers or even rupture of vessels.

Field Report

Paul P., 42 years old

Lifestyle: office work with little exercise, meat-heavy diet

Result: our diagnostics identified an increased cardiovascular risk for Paul P. due to a variant in the gene SCN5A.

Consequence: now, Paul P. is connected to a cardiologist and frequently attends prevention measures to be able to start therapy at an early stage if necessary.

“In my genetic analysis, a variant was found that can cause cardiac arrhythmia. Since then, I’ve been going to the cardiologist regularly for check-ups and have adapted my physical activity and diet to this new situation.”

Paul P. has an increased risk of cardiac arrhythmia.

How Does Genetic Risk Assessment Work?

Many factors can contribute to the development of cardiovascular diseases. With our Disease Prevention Panel, we can assess the genetic risk for cardiovascular diseases. To do this, we use next-generation sequencing (NGS), a comprehensive method for the precise reading of genetic information and the reliable detection of gene changes (variants).

In the Cardiovascular Diseases module, fifty-six genes associated with a hereditary increased risk for cardiovascular diseases are analyzed. Pathogenic changes in these genes can give a hint to the treating physician if a closer supervision, an adaptation of the lifestyle or a therapy might be necessary. Therefore, health prevention can be adapted individually based on a person’s genetic profile.

Gene Set

Cardiovascular Diseases (PRV02, 56 Genes)

ACTA2, ACTC1, ACVRL1, ALPK3, BAG3, BMPR2, CALM1, CALM2, CALM3, CASQ2, CAV1, COL3A1, DES, DSC2, DSG2, DSP, EMD, ENG, FBN1, FHL1, FLNC, GDF2, KCNH2, KCNK3, KCNQ1, KDR, LAMP2, LMNA, LOX, MYBPC3, MYH11, MYH7, MYL2, MYL3, MYLK, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, SMAD3, SMAD9, TBX4, TECRL, TGFB2, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR

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PRV team of CeGaT