识别关键的心脏基因变异
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。
The growing case for understanding genetics in cardiovascular disease
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
Selected cardiovascular diseases with known genetic links
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
Over 1 in 2,000
Arrhythmias, a cardiovascular condition causing irregular or abnormal heartbeat rhythm, affect over 1 in 2,000 people.7
1 in 500
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.
16 in 100,000
Familial aortopathy, characterized by an abnormal change in the aorta, affects up to 16 in 100,000 people.9
1 in 300
Familial hypercholesterolemia, a genetic condition that causes high cholesterol, affects 1 in 300 people.10
Learn more
Cardiovascular disease research
Stay on the cutting edge of cardiovascular disease genetic research. Explore various solutions and methods that can accelerate and deepen your research discoveries.
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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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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.
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References
- Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace. 2001;13(8):1077-1109.
- Ashley EA, Hershberger RE, Caleshu C, Ellinor PT, Garcia JGN, et al. Genetics and cardiovascular disease: a policy statement from the American Heart Association. Circulation. 2012;126(1)142-157. Epub 2012 May 29.
- World Health Organization. 2023. Cardiovascular diseases.
- Roth GA, Mensah GA, Johnson CO, et al. Global Burden of Cardiovascular Diseases and Risk Factors, 1990-2019: Update From the GBD 2019 Study [published correction appears in J Am Coll Cardiol. 2021 Apr 20;77(15):1958-1959]. J Am Coll Cardiol. 2020;76(25):2982-3021. doi:10.1016/j.jacc.2020.11.010
- McPherson R, Tybjaerg-Hansen A. Genetics of Coronary Artery Disease. Circ Res. 2016;118(4):564-578. doi:10.1161/CIRCRESAHA.115.306566
- Musunuru K, Hershberger RE, Day SM, et al. Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2020;13(4):e000067. doi:10.1161/HCG.0000000000000067
- rarediseases.org/rare-diseases/romano-ward-syndrome/?filter=ovr-ds-resources
- cdc.gov/heartdisease/cardiomyopathy.htm
- Olsson C, Thelin S, Ståhle E, Ekbom A, Granath F. Thoracic aortic aneurysm and dissection: increasing prevalence and improved outcomes reported in a nationwide population-based study of more than 14,000 cases from 1987 to 2002. Circulation. 2006;114(24):2611-2618. doi:10.1161/CIRCULATIONAHA.106.630400
- Tada H, Takamura M, Kawashiri MA. Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents. Vasc Health Risk Manag. 2021;17:59-67. Published 2021 Feb 17. doi:10.2147/VHRM.S266249