Cardiovascular genomics research has identified many genetic variants associated with cardiovascular related conditions. Studies have shown that most causative gene variants are unique familial variants,1 and therefore, seen infrequently.2 Additionally, small panels used in clinical testing can miss causal gene variants implicated in inherited heart diseases.
Comprehensive next-generation sequencing (NGS) panels for cardiovascular genomics provide broad coverage of cardiac genes with links to known diseases. Unlike single-gene assays or small panels, which can lead to time-consuming and expensive iterative testing, NGS panels assess multiple cardiac genes simultaneously.
Cardiovascular related diseases are the leading cause of death throughout the world. Although many causes of the disease can be linked to lifestyle and behavior, there still remains much more to learn about how genetic variation can contribute to disease. To help put things into perspective, here are a few general facts about heart disease.
Cardiovascular disease is the leading cause of death globally, claiming around 17.9 million lives each year.3
The number of people living with cardiovascular disease nearly doubled from 1990 to 2019, from 271 million to 523 million cases.4
The heritability of coronary artery disease has been estimated between 40% and 60%.5
The American Heart Association (AHA) summarizes the current best practices for genetic testing in inherited cardiovascular conditions, including arrhythmias, cardiomyopathies, vascular disorders, and lipid disorders (such as familial hypercholesterolemia). Even patients who have been clinically diagnosed with an inherited cardiovascular disease could benefit from genetic testing, as it could identify the responsible variant and help to better guide their management, treatment, and inform cascade testing.6
Arrhythmias, a cardiovascular condition causing irregular or abnormal heartbeat rhythm, affect over 1 in 2,000 people.7
Cardiomyopathies affect 1 in 500 people. Also known as heart muscle disease, cardiomyopathy is the most common inherited cardiac disorder.8 This disease causes the heart to be unable to pump blood efficiently throughout the body.
Familial aortopathy, characterized by an abnormal change in the aorta, affects up to 16 in 100,000 people.9
Familial hypercholesterolemia, a genetic condition that causes high cholesterol, affects 1 in 300 people.10
Stay on the cutting edge of cardiovascular disease genetic research. Explore various solutions and methods that can accelerate and deepen your research discoveries.
Read the benefits of cardiovascular disease genomics on the diagnosis, management, and treatment of patients. Get updated guidelines from leading professional medical societies.
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