心血管遗传学

The need for comprehensive coverage of cardiac genes

Understanding cardiovascular diseases through genomic sequencing

identifying gene variants

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

icon heart arrhythmias
Over 1 in 2,000

Arrhythmias, a cardiovascular condition causing irregular or abnormal heartbeat rhythm, affect over 1 in 2,000 people.7

icon cardiomyopathies
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.

icon aortopathy
16 in 100,000

Familial aortopathy, characterized by an abnormal change in the aorta, affects up to 16 in 100,000 people.9

icon hypercholesterolemia
1 in 300

Familial hypercholesterolemia, a genetic condition that causes high cholesterol, affects 1 in 300 people.10

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THOUGHT LEADERSHIP

Featured experts on cardiovascular genomics

Interview: pharmacogenetics of cardiovascular disease therapy
Improving cardiovascular therapies through pharmacogenomics

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.

Webinar: cardiovascular outcomes and genetic testing
Can genetic testing improve cardiovascular outcomes?

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.

Podcast: genetics to predict heart attack risk
Using genetics to predict heart attack risk

In this podcast, Dr. Guillaume Paré discusses how genetics can help identify people at risk for familial hypercholesterolemia and early cardiovascular disease.

相关内容

精准基因组学

基因组学驱动的精准医疗可以帮助识别与疾病相关的变异,找出疾病的潜在遗传原因,并优化治疗。

多基因风险评分

该评分代表个体具有的遗传变异数量,这些变异会增加他们罹患某种特定疾病的风险。了解关键的考虑因素和未来的用途。

References
  1. 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.
  2. 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.
  3. World Health Organization. 2023. Cardiovascular diseases.
  4. 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
  5. McPherson R, Tybjaerg-Hansen A. Genetics of Coronary Artery Disease. Circ Res. 2016;118(4):564-578. doi:10.1161/CIRCRESAHA.115.306566
  6. 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
  7. rarediseases.org/rare-diseases/romano-ward-syndrome/?filter=ovr-ds-resources
  8. cdc.gov/heartdisease/cardiomyopathy.htm
  9. 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
  10. 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