Genetics, Phenotype, Prevalence, Symptoms, Risk Assessment and Interventions for Cardiovascular Disease

This presentation covers the genetics, phenotype, prevalence, symptoms, risk assessment and interventions for cardiovascular disease. It emphasizes the importance of family history, physical assessment, and care plan. It also provides recommendations and referrals for a healthy lifestyle.

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.

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 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.

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 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.

Referrals
A person suffering from cardiovascular diseases may be
offered referrals to specialist services.
 Dietician- A dietician would be included in the referral
because he will help the patient to consume a balanced and
healthy diet. This would further help in losing weight.
 Specialist stop smoking clinic- This would be required to
help the patient to quit the habit of smoking as it is a risk
factor for cardiovascular disease.

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Supervised exercise program-
 The patient may also be referred to a supervised
exercise program.
 Supervised program would ensure physical activity
of appropriate mode, duration, frequency, intensity
and progression which is suitable for the person
concerned.
 Patient supervision will be inclusive of monitoring
the heart rate and rhythm.

Recommendations
 It is recommended that people who have been diagnosed with
clinically stable cardiovascular diseases should undertake
moderate physical activity of moderate intensity for 30
minutes.
 In addition to it, the patient can also be encouraged to
undertake resistance activity regular low – to – moderate
level.

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 General health recommendation is to to consume low- fat
products so that the intake of saturated fatty acids can be
reduced.
 It is recommended that alcohol should be avoided.
 It is recommended to drink plenty of water and reduce the
consumption of sweetened beverages.
 The dietary intake of sodium should be limited.

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 Potassium should be consumed at a level which
will keep the sodium potassium ratio to 1.0.
 It is recommended to learn about the disease, the
working of heart and the type of heart defect.

Care plan
Assessment
Assessing the patient for the presence of symptoms of
cardiovascular disease. At this stage the patient will be
diagnosed. This will be concerned with determining the
problems with which the patient is suffering.
Goals
The goal of care plan could be the following:
 To improve the nutritional status of patient and reduce the
level o cholesterol in blood
 To control the blood pressure

CONTINUED...
Interventions
 The interventions will comprise of the actions that
will be taken to achieve the set goals. This would
comprise of:
 Balanced diet
 Regular physical activity
 Alcohol and smoking cessation
 Timely medication

Continued...
Evaluation
 At this stage the progress towards goals will be determined.
 Provision of information about the following:
 Importance of adhering to medication
 Importance of balanced diet
 Importance of exercise
 Significance of weight controlled importance of smoking
cessation
 Importance of controlling blood pressure

Continued...
Physician monitoring of outcomes to comply with
regimen goals
 Monitoring laboratory data to comply with the
recommended testing
 Monitoring results for determining the need for
developing further interventions

References
Haan, N. M. and Mayeda, R. E., 2010. Apolipoprotein E
Genotype and Cardiovascular Diseases in the Elderly. Curr
Cardiovasc Risk Rep. 4(5). pp.361–368.
Tonetti, M. S. and Dyke, T. E., 2013. Periodontitis and
atherosclerotic cardiovascular disease: consensus report of the
Joint EFP/AAP Workshop on Periodontitis and Systemic
Diseases. Journal of clinical periodontology. 40(14). pp.24-29.
Regitz-Zagrosek, V. and et.al., 2011. ESC Guidelines on the
management of cardiovascular diseases during pregnancy.
European heart journal. 218.
Yang, Q. and et.al., 2014. Added sugar intake and cardiovascular
diseases mortality among US adults. JAMA internal medicine.
174(4). pp.516-524.

References
Bhatnagar, P. and et.al., 2015. The epidemiology of
cardiovascular disease in the UK 2014. Heart.
[Online]. Available Through.
<http://heart.bmj.com/content/early/2015/05/06/heartj
nl-2015-307516.full#sec-5>. [Accessed on 10
November 2015].
Data and statistics. 2015. [Online]. Available
Through.
<http://www.euro.who.int/en/health-topics/noncommu
nicable-diseases/cardiovascular-diseases/data-and-
statistics>. [Accessed on 10 November 2015].

References
Family History and Heart Disease, Stroke. 2015.
[Online]. Available Through.
<http://www.heart.org/HEARTORG/Conditions/More/
MyHeartandStrokeNews/Family-History-and-Heart-
Disease-
Stroke_UCM_442849_Article.jsp#.VkHn2aW1Gkp>.
[Accessed on 10 November 2015].
Cardiovascular disease - Prevention in adults. 2015.
[Online]. Available Through.
<http://www.nhs.uk/Conditions/cardiovascular-
disease/Pages/Prevention-adults.aspx>. [Accessed
on 10 November 2015].

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