Genome Foundation

What is cardiovascular disease?

Cardiovascular disease (CVD) is a leading health problem, affecting over 1,80,00,000 individuals in India alone. CVD encompasses various disorders, including vasculature, the myocardium, the heart's electrical circuit, and congenital heart disease (Roger et al., 2012). For nearly all of these disorders, inherited DNA sequence variants play a role in conferring risk for disease. For example, in the general population, a parent's history of premature atherosclerotic CVD confers a ~3.0-fold increase in CVD risk to offspring (Lloyd-Jones et al., 2004).

However, the precise magnitude of the role of inheritance varies by disease and other factors such as age of disease onset and subtype of disease. Over the past century, a key goal of biomedical research has been to correlate genotype with phenotype, i.e., to identify the specific genes and DNA sequence variants responsible for trait variations in humans. Naturally occurring genetic variation has the unique potential to reveal causal biologic mechanisms in humans.

What are the various genetics services offered for cardiovascular diseases?

Although lifestyle factors put a person at risk for heart disease, genetic predispositions may also play a significant role in a person's risk of developing a cardiac condition. Clinical and genetic screenings of patients and their family members, interpretation of test results and personalized treatment strategies can help patients live longer, healthier lives. Patients need to speak with their physician about the availability of genetic counselling and testing, especially if they have a family history of cardiac conditions.

In some cases, genetic testing for inherited cardiac conditions can help clarify a diagnosis, direct treatment or screening guidelines, or provide helpful information about the likelihood that your family members may be affected by the same condition.

Since genetic testing results can often significantly impact other family members, our genetic counsellors are available to explain the results in detail and discuss how you and your family members may be affected by this information.

Testing for Genetic Heart Conditions

We recommend family screening and genetic counselling for the following conditions*:

Long QT syndrome, Brugada syndrome, arrhythmogenic right ventricular cardiomyopathy (ARVC), catecholaminergic polymorphic ventricular tachycardia (CPVT), and other sudden cardiac arrest syndromes
Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and other connective tissue disorders
Familial hypercholesterolemia and other inherited dyslipidemias
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Aortic aneurysms and dissections
Autoimmune disease: a condition in which your immune system mistakenly attacks your body (e.g. lupus, rheumatoid arthritis and scleroderma)

Note :

[Only a few cardiac diseases are listed here. For more tests, please get in touch with us.]
[Highlighted in yellow are some of the CVDs Genome Foundation has treated or is treating]

Genome Foundation Offers

Genome Foundation is structured to provide patients with comprehensive and informative care. Our experts are skilled in the non-invasive evaluation of genetically triggered cardiovascular diseases. Our clinicians are committed to providing expert care and establishing new best practices for treating and preventing cardiovascular diseases.

Our comprehensive care includes:

Genetic testing and counselling
Individualized screening and treatment options
Risk stratification and advanced cardiovascular lab testing
Medical treatments
Non-invasive cardiovascular imaging
Cardiac surgical consultation
Patient/family education and support
Seamless care with referring cardiologists and primary care physicians

About the Genetic Tests offered by Genome Foundation
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FAQs

What is heart disease?

Heart disease is a general term that includes many types of heart problems. It's also called cardiovascular disease, which means heart and blood vessel disease.

What are the types of heart disease?

There are many different types of heart disease. Some you may be born with, called congenital heart disease. Other types develop during your lifetime.

Coronary artery disease (coronary heart disease) is the most common type. It happens slowly over time when a sticky substance called plaque builds up in the arteries that supply your heart muscle with blood. The plaque narrows or blocks blood flow to the heart muscle and can lead to other heart problems:

Angina - chest pain from lack of blood flow
Heart attacks - when part of the heart muscle dies from loss of blood flow
Heart failure - when your heart can't pump enough blood to meet your body's needs
Arrhythmia - a problem with the rate or rhythm of your heartbeat

Other types of heart diseases may affect your heart valves or heart muscle (cardiomyopathy).

What causes heart disease?

The causes of heart disease depend on the type of disease. Some possible reasons include lifestyle, genetics, infections, medicines, and other conditions.

How are heart diseases diagnosed?

To find out if you have heart disease, your healthcare provider will:

Ask about your medical history, including your symptoms
Ask about your family health history, including relatives who have had heart disease
Do a physical exam
Likely run heart tests and blood tests

Sometimes, your provider may refer you to a cardiologist (a doctor specialising in heart diseases) for tests, diagnosis, and care.

What are the treatments for heart disease?

Treatment plans for heart disease depend on your type of heart disease, your symptoms, and what other health conditions you have. Possible treatments may include: