More than 40 different cardiovascular conditions with a direct genetic link have been identified. These include problems with your heart's rhythm, called arrhythmias; diseases of the heart muscle, called cardiomyopathies; thinning of the large heart vessel, called aortic aneurysms; and high cholesterol, called hypercholesterolemia.1
Fortunately, genetic testing is gaining wider recognition from professional medical societies in the clinical management of individuals and families affected by inherited conditions related to heart disease.2
Long QT syndrome (LQTS) is a life-threatening condition that can disrupt the normal beating rhythm of the heart and represents a leading cause of sudden death in the young. This condition is typically characterized by a prolongation of the QT interval on an electrocardiogram (ECG).
Hypertrophic cardiomyopathy is a type of heart disease most often caused by abnormal genes that thicken the heart muscle. This typically affects the walls of the left heart chamber (left ventricle). As a result, the thickened walls of the heart are not able to pump blood effectively.
This is a rare condition that weakens or enlarges the aorta, the large blood vessel that distributes blood from the heart to the body. As a result, this can lead to a sudden tear in the inner wall of the aorta that allows blood to flow between the aorta's inner and outer walls (also called a dissection).
Familial hypercholesterolemia (FH) is an inherited defect in how the body recycles low-density lipoprotein cholesterol (LDL). This results in high levels of LDL cholesterol, which can lead to a higher risk of a heart attack.
If you would like to learn more about your risk for heart disease, talk to your doctor or genetic counselor about genetic testing. The results of genetic testing can help your doctor with your diagnosis, management, and treatment. Your results may also help find family members who are also at risk.2
In the United States, the Genetic Information Nondiscrimination Act (GINA) of 2008 prevents health insurance companies and employers from taking actions based on genetic test results.
In the European Union, the EU Charter of Fundamental Rights, Chapter III, Article 21 prevents any actions based on genetic features.
Illumina is a founding member of the CardioGenomic Testing Alliance (CGTA), which is a group of companies and labs working together to raise awareness about the best uses of genetic testing for heart diseases.Learn more
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Illumina is making clinical whole-genome sequencing accessible for underserved children facing rare and undiagnosed genetic diseases. The iHope program aims to end long diagnostic journeys to find answers quickly.
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