Abstract
The term “cardiovascular disease” encompasses a number of different conditions that affect different aspects of the circulatory system. Family history is often very useful in predicting one’s risk for cardiovascular disease, and this chapter includes a list of several Internet websites that will analyze family and personal data and estimate one’s level of risk. The development of predictive genetic tests has been difficult for several reasons, including the likelihood that there is more than one molecular subtype present in any group of patients with the same clinical diagnosis. Most of the risk-increasing alleles that have been discovered have low penetrance; it may require hundreds of individual genetic tests to provide the critical genetic data to predict one’s risk. The list of candidate genes is growing rapidly, however. The list includes genes whose proteins are integral to the cardiac musculature, as well as genes that influence aspects of metabolism that may predispose one to cardiovascular disease, including blood lipid and sugar levels, blood pressure, cardiac ion channel function, inflammation, oxidative stress and blood homocysteine levels. The chapter includes a discussion of these low-penetrance gene variants, as well as a discussion of two examples of cardiovascular diseases for which highly penetrant risk-increasing alleles have been reported: familial hypercholesterolemia and hypertrophic cardiomyopathy. The chapter also includes a discussion of the pharmacogenetic tests that can influence the choice of treatment for patients with cardiovascular disease, and a case report that illustrates both the benefits and limitations of genetic testing in a patient with type 2 diabetes and a family history of myocardial infarction.
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Notes
- 1.
Recall from Chap. 1 that some testing laboratories have adopted the term “single nucleotide variant,” abbreviated as SNV, in place of the traditional term “single nucleotide polymorphism,” abbreviated as SNP.
Further Readings
Ackerman MJ, Mohler PJ (2010) Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins. Circulation Research 107(4):457– 65
Campuzano O, Beltrán-Alvarez P, Iglesias A, Scornik F, Pérez G, Brugada R (2010) Genetics and cardiac channelopathies. Genetics In Medicine 12(5):260 –7
Cowan J, Morales A, Dagua J, Hershberger RE (2008) Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations. Congestive Heart Failure14(2):97–105
Darbar D (2010) Genomics, heart failure and sudden cardiac death. Heart Failure Review15(3):229 –38
Dorn GW, Cresci S (2009) Genome-Wide Association Studies of Coronary Artery Disease and Heart Failure: Where Are We Going? Pharmacogenomics 10(2):213–223
Kolovou GD, Kostakou PM, Anagnostopoulou KK (2011) Familial hypercholesterolemia and triglyceride metabolism. International Journal of Cardiology 147(3):349–358
McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, Hinds DA, Pennacchio LA, Tybjaerg-Hansen A, Folsom AR, Boerwinkle E, Hobbs HH, Cohen JC (2007) A common allele on chromosome 9 associated with coronary heart disease. Science 316(5830):1488–91
Roden DM (2008) Clinical practice. Long-QT syndrome. New England Journal Medicine 358(2):169–76
Scheuner MT (2004) Clinical application of genetic risk assessment strategies for coronary artery disease: genotypes, phenotypes, and family history. Primary Care 31(3):711–37
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© 2011 Springer Science+Business Media B.V.
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Sweet, K.M., Michaelis, R.C. (2011). Personalizing Risk Assessments and Treatments for Complex Cardiovascular Disease. In: The Busy Physician’s Guide To Genetics, Genomics and Personalized Medicine. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-1147-1_6
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DOI: https://doi.org/10.1007/978-94-007-1147-1_6
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