The, Genetics And Familial Inheritance And Cardiovascular Disease History

These two genes being CYP2C9 and VKORC1. Genotyping of a person in need of anticoagulation medication is important as the warfarin to be administered is greatly determined by which gene they encode. For example, a person with the gene coding for CYP2C9 doesn’t require a dosage as low as the VKORC1 variant demands, and could lead to complications like death or prove ineffective if delivered at a concentration suitable for VKORC1. Warfarin therapy and its complications highlight the importance of genotype guided dosing and its clinical utilities, providing accurate dosage measurements, governed by need rather than

As discussed by Dr. Fink, hypertension is a multifactorial phenomenon. The hereditability based on twin studies suggests levels as high as 30-60%, but a familial correlation may also originate from environmental factors or lifestyle habits. Specific genetic polymorphisms that may contribute include mutations in controllers of vascular smooth muscle tone and the regulators of blood volume (Mitchell, 262). It is important to note that the genetic contribution is most often polygenic in nature and not the result of a single gene mutation. This can complicate the overall picture and prevention/treatment

Morita (2005) stated that ‘recent insights into molecular genetic causes of myocardial diseases have highlighted the importance of single-gene defects in the pathogenesis of heart failure’. The information we can collect from investigation of gene defects, and an understanding of how genetics contributes to the development of heart failure, will ultimately help in prevention, treatment and possibly cure of cardiomyopathies in the future but we must also consider the environmental factors role.

The second risk factor is high cholesterol. When it comes to a normal person and their cholesterol it comes down to the fact that their HDL numbers are considered normal, so

The underlying risk factors include obesity, physical inactivity and an atherogenic diet. The major risk factors for cardiovascular disease in this syndrome are smoking, hypertension, increased LDL cholesterol and low HDL cholesterol, aging and a family history of coronary events. The emerging risk factors are increased triglycerides, small LDL particles, insulin resistance, a pro inflammatory and prothrombotic state as well as glucose intolerance. The combination of these factors in one person is a predictor of that person having a future cardiovascular event or the onset of type 2 diabetes (Meigs, 2010). With so many risk factors laying down a set of defined parameters can be daunting. It is no wonder researchers often argue over set guidelines. However with more and more people developing these problems, it is necessary to start somewhere.

Familial hypercholesterolaemia (FH) is an autosomal, dominant, inherited disorder of lipoprotein metabolism that results in elevated low-density lipoprotein cholesterol (LDL) in plasma concentration (Henderson, O’kane, McGilligan, & Waterson, 2016). FH can dramatically increased risk of atherosclerosis, which can lead to a common genetic cause of premature coronary heart disease (CHD). It is crucial for patients to know their genetic family history and genogram to have early diagnosis, treatments, and follow ups that may delay the complications of the course of FH and consequently CHD or other cardiovascular diseases (CVD). The proband is paramount in identifying other at-risk individuals; hence, enabling, and educating these patients to discuss the risk with family members is essential. Nurses need the knowledge of FH genetic standpoint to educate patients and make appropriate referrals for individuals in need of genetic counseling. The purpose of this paper is to complete a genetic family history of an individual of choice. Construct a genogram and attach it to this paper as an Appendix. Provide and explanation of the genogram

Versmissen, J., Vongpromek, R., Yahya, R., van der Net, J. B., van Vark‐van der Zee, L., Blommesteijn‐Touw, J., … Sijbrands, E. J. G. (2016). Familial hypercholesterolemia: cholesterol efflux and coronary disease. European Journal of Clinical Investigation, 46(7), 643–650.

Cardiovascular disease, including stroke and sudden cardiac death, is the leading cause of death in the world population, representing 30% of all deaths in 2008 (Wung et al., 2013). Understanding genetic variations related to cardiovascular disease is a tremendous undertaking because common forms of Cardiovascular disease seem to be impacted by many factors, including multiple gene involvement and environmental influence (Wung, 2013). Wung et al. (2013) focused on three areas of cardiovascular disease and reviewed the genetic research that has been done, the findings and the relevance of genetic testing. Wung et a. (2013), report that there is evidence to support coronary artery disease (CAD) and myocardial infarctions (MI) having traits that

While the exact origin of this disease is unknown, medical research claims there are predisposing factors that make an individual more prone to becoming hypertensive. The prevalence of high blood pressure differs by race/ethnicity, with the condition being more common among blacks, comprising 40.4% of known cases (MMWR, 2013). There are certainly other personal contributing factors that helped with the progression of the disease. Vicki is an African American woman in her early forties, and lives a very busy lifestyle which requires her to travel quite frequently. From this we know that she has an abnormally sedentary routine which promotes vascular insufficiencies. Lacking substantial physical activity permits the vessels to constrict over time. With more resistance in the arteries, her heart cannot pump resourcefully and blood flow is slowly

Hypercholesterolemia is both a dominant and recessive disorder. The genotypes for the dominant disorder would be heterozygous and for the recessive disorder the genotype would be a Homozygous recessive. The two genotypes in the hypercholesterolemia disorder represent the severity of its affects will be. Both of heterozygous and homozygous version of hypercholesterolemia cause a loss of low density lipoproteins. Low density Lipoproteins are receptors in the liver cell that breaks down cholesterol carried in the blood, the loss of lipoproteins can cause severe consequences in an individual. In a heterozygous version of hypercholesterolemia an individual would have blood levels that are twice than normal due to the loss of lipoproteins. This would cause an individual to have an increase in cholesterol build up in the artery walls which can lead to serious heart problems. Homozygous recessive version is the worst

The primary interest of Dr. Euan Ashley involves the interplay between the human genome and cardiovascular performance. Among the other projects being worked on in his lab, some of them include investigating high throughput genetic techniques for developing tools for genetic risk assessment, specifically related to cardiovascular diseases and documenting the genetic profiles of elite athletes to gain insight into the genetic make up of those with good overall cardiovascular health. Of the many papers that have been published in the Ashley lab, two that stood out were published very recently, his 2015 JACC: Heat Failure paper, Cardiopulmonary Responses and Prognosis in Hypertrophic Cardiomyopathy and his 2015 Journal of Cardiac Failure paper, Prevalence and Prognostic Role of Right Ventricular Involvement in Stress-Induced Cardiomyopathy.

Cardiovascular disease, including stroke and sudden cardiac death, is the leading cause of death in the world population, representing 30% of all deaths in 2008 (Wung et al., 2013). Understanding genetic variations related to cardiovascular disease is a tremendous undertaking because common forms of cardiovascular disease seem to be impacted by many factors, including multiple gene involvement and environmental influence (Wung et al., 2013). Wung et al. (2013) focused on three areas of cardiovascular disease and reviewed some of the genetic research that has been done, the findings of

Cholesterol can also be inherited: lysosomal acid lipase deficiency, type 3 hyperlipidemia, familial hypercholesterolemia, and polygenic hypercholesterolemia. Secondary causes for high cholesterol include kidney failure, chronic alcoholism, hypothyroidism (underactive thyroid gland), and type 2 diabetes.

A common polymorphism in exon 7 of the endothelial NOS gene is (894G>T) (Nadaud S et al). This results in a substitution of amino acid Glutamate to Aspartate. (894G>T) polymorphism has been reported to be a strong risk factor for coronary artery diseases.

trace our client’s family tree and make corresponding legends that will show the hereditary diseases and the present status of our client’s family members;