Diagnostics
Cardiogenomics
Testing for genetic variants in cardiovascular disease is helping to improve diagnosis and precision treatment.
Genetic testing for cardiac disease is a laboratory procedure that may be performed in the course of cardiology and vascular care to determine your personal risk of cardiovascular disease.
Your risk factor is based on your inherited or carried genes.
Genetic testing is informative and useful for the clinical management of various inherited cardiovascular diseases such as cardiomyopathies, arrhythmic disorders, thoracic aortic aneurysms and dissections, and familial hypercholesterolemia (FH).
Cardiovascular genetic testing involves taking a sample of a family member’s DNA, typically through blood or saliva tests, which are taken to identify or determine the presence of gene variants that are known to cause inherited CVD.
There are about 400 genes that have been implicated in congenital heart disease (CHD), encompassing transcription factors, cell signaling molecules, and structural proteins that are important for heart development.
The American Heart Association has also highlighted 30 medically actionable genes related to cardiovascular diseases, from a list by the American College of Medical Genetics and Genomics (ACMG). Even in patients who have a clinical diagnosis of an inherited cardiovascular disease, genetic testing could identify the responsible mutation and help tailor their care. New genetic-genomic studies of heart and vascular diseases are better identifying patients at increased risk of sudden cardiac death.
Recent studies have shown genes encoding chromatin modifiers, cilia-related proteins, and cilia-transduced cell signaling pathways play important roles in CHD pathogenesis.
- Some cardiovascular diseases may be inherited, including cardiomyopathies, arrhythmic disorders, aneurysms and certain types of lipid disorders.
- The implications of genetic testing extend beyond the original patient, and family members at risk of the same cardiovascular condition should also undergo testing.
- Genetic counseling is essential both before and after genetic testing.
Source: Newsroom Genetic testing for heart diseases may help patients and families identify risks, The American Heart Association, July 23, 2020.