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

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.