Analysis of Cardiovascular Disease: Genetics, Risk, and Care Planning

This report provides a detailed overview of cardiovascular disease, beginning with its genetic underpinnings, including the role of the APOE genotype and gene mutations affecting sarcomere proteins. It emphasizes the importance of family history in assessing CVD risk and outlines clinical symptoms for advanced physical assessment. The report covers key interventions such as smoking cessation, exercise, a healthy diet, and medication, alongside referrals to dieticians and supervised exercise programs. Recommendations include moderate physical activity, a low-fat diet, limited alcohol and sodium intake, and adequate potassium consumption. A comprehensive care plan is presented, encompassing assessment, goal setting (improving nutritional status and controlling blood pressure), interventions (balanced diet, exercise, smoking cessation, and medication), and evaluation, with a focus on patient education and physician monitoring. This resource is available for students on Desklib, where they can find similar assignments and study tools.

Cardiovascular disease

GENETICS OF CARDIOVASCULAR DISEASE
Genotype
 The apolipoprotein E (APOE) genotype is
considered to be a genetic risk factor for
cardiovascular disease.
 It includes 3 alleles e2, e3, e4 which are located on
chromosome 19q3.2

Phenotype
 Phenotypically, cardiovascular diseases can be
manifested with acute events such as myocardial
infarction.
 It is also manifested with chronic stable symptoms
of ischemia
 Acute coronary syndrome phenotype includes
myocardial infarction and unstable angina.
 Angiographic phenotype is defined as the presence
of stenosis above a certain threshold on a major
epicardial artery.

Prevalence
 It causes more than half of all deaths in European
region.
 More than a quarter of all deaths in UK are caused
due to cardiovascular diseases
 Around 7 million people in UK are living with a
cardiovascular disease
 In UK, England has the lowest prevalence of
cardiovascular diseases. The prevalence of coronary
heart disease in England is 3.4 per cent while for
stroke it is 1.7 per cent.

Continued...
 Scotland has the highest prevalence for coronary
heart disease which is 4.3 per cent.
 Wales has the highest prevalence of hypertension
which is 15.5 per cent.

Details of mutation or
polymorphism
 There is an emerging recognition that multiple disease
causing gene mutations are carried by a proportion of
patients.
 Sarcomere protein gene mutations are responsible for
causing either dilated cardiomyopathy or hypertrophic
cardiomyopathy.
 Arg442His missense mutation in beta-cardiac myosin heavy
chain leads to endocardial fibroelaastosis, dilated
cardiomyopathy and heart failure.

FAMILY HISTORY TAKING
 Family history is an important aspect in
cardiovascular diseases
 It is strongly linked to risk of heart disease as well
as risk factors for heart disease
 Possessing a family history of cardiovascular
disease increases the risk of developing a CVD
such as angina, heart attack, coronary heart disease,
stroke and heart failure.

Continued...
 However, it depends on the number and age of
affected first-degree relatives
 Genes are responsible for passing on the risk of
high blood pressure and high cholesterol levels.
This increases the risk of cardiovascular disease if
a person has family history of it.
 There is a 40 per cent risk increase of CVD in the
siblings of patients with CVD

ADVANCED PHYSICAL
ASSESSMENT
Clinical symptoms of cardiovascular diseases include:
 Shortness of breath
 There is dull/ heavy to sharp pain or discomfort in the chest
 Numbness, weakness and coldness in legs and arms
 Pain in throat, jaw, neck, back or abdomen

RISK ASSESSMENT
 People with the following symptoms should assess
the risk for cardiovascular diseases:
 Person who has a family history of CVD
 Person who has high blood prssure
 Person who has high cholesterol level in the blood

CLINICAL JUDGEMENT AND
DECISION MAKING
Interventions
Interventions for cardiovascular disease include its prevention.
These include:
 Avoid smoking: Smoking is considered to be one of the risk
factors for development of cardiovascular diseases. Tobacco in
cigarette contains chemicals which damage the heart and its
vessels. This leads to narrowing of arteries. It also results in
atherosclerosis. Hence, one of the interventions for
cardiovascular diseases is to avoid smoking.
 Exercise- Cardiovascular diseases can be prevented by getting
some regular and daily exercise. With physical activity, weight
can be controlled and thus the chances of putting a strain on
heart are reduced.

Continued...
 Healthy diet- A healthy and balanced diet is another
intervention for cardiovascular diseases. There should be
consumption of diet which is rich in fruits, vegetables, whole
grains etc.
 Medication – Medication sometimes helps in preventing
cardiovascular diseases. This includes blood pressure tablets,
statins and low dose aspirin. Tablets such as angiotensin-
converting enzyme (ACE) inhibitors are effective for treatment
of high blood pressure. Statins help in lowering the level of
cholesterol in blood. Aspirin prevents blood clots.