心血管遗传学研究已经鉴定出了许多与心脏病相关的遗传变异。 研究表明,大多数致病基因变异是特有的家族变异,1因此非常罕见。2此外,用于临床测试的小panel可能会遗漏与遗传性心脏病有关的致病基因变异。
用于心血管遗传学的全面新一代测序(NGS)panel可广泛涵盖与已知疾病有关的心脏基因。 与单基因检测或小panel昂贵且耗时的反复检测不同,NGS检测panel可同时评估多个心脏基因。
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.
Learn how genetic testing can help your diagnosis, management, and treatment options.
Pharmacogenomics can reveal how a patient responds to drugs and serve as an important tool to identify efficacy. In this interview, Dr. Marie-Pierre Dubé, PhD discusses how she identified genotypes of responders and nonresponders using Illumina technologies.
In this webinar, Dr. Joshua Knowles discusses the importance of genetic cascade testing in familial hypercholesteremia, as well as implementing polygenic risk scores in clinical care.
In this podcast, Dr. Guillaume Paré discusses how genetics can help identify people at risk for familial hypercholesterolemia and early cardiovascular disease.