Cardiovascular Genetics

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A group of disorders of the heart and blood vessels, are the leading cause of illness and death worldwide, responsible for 32% of all deaths globally. 

There are many types of hereditary cardiovascular diseases, ranging from manageable diseases to complex diseases with severe life-threatening symptoms. Overlapping symptoms can make it challenging to identify the underlying cardiovascular condition.

Genetic testing can diagnose hereditary cardiovascular conditions and can also help with a differential diagnosis when necessary.

Diseases caused by inherited genetic mutations (changes in the DNA that are called variants) and have a prevalence of 3% in the population. Most genetic variants causing cardiovascular conditions are passed down in an autosomal dominant pattern. Autosomal dominant pattern means that inheriting only one copy of a mutated gene from one biological parent can cause a disease. Therefore, there is a 50% chance of a child inheriting the same cardiovascular condition as the affected parent.

When someone is diagnosed with a hereditary cardiovascular disease, other close family members could benefit from genetic testing by looking for the same genetic variant, as identification prior to disease onset can lead to better clinical management.

For high-risk asymptomatic individuals with a cardiovascular genetic variant, genetic testing can help doctors recommend appropriate examinations at key time intervals. 

Early intervention can be lifesaving for individuals who have already developed symptoms as well as for individuals who are currently asymptomatic. 

Hereditary cardiac disorders have a prevalence of 3% in the population.

Arrhythmogenic diseases are responsible for most cardiac mortality in the young, and congenital heart defects are the most common type of birth defect (1% of all live births).

Owing to improved treatment and management options, there are more adults living with congenital heart defects than children. Importantly, deaths from aortic aneurysms may be prevented if individuals at risk are identified and managed. 

Many cardiac and aortic disorders show overlapping cardiac and non-cardiac symptoms, and genetic testing can help with a differential diagnosis in those cases. We offer comprehensive panels testing cardiac disorders.

• Congenital Heart Disease (CHD)
• Cardiac Channelopathies
• Long QT Syndrome (LQTS)
• Short QT Syndrome (SQTS)
• Brugada Syndrome (BS)
• Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
• Cardiomyopathy
• Hypertrophic Cardiomyopathy (HCM)
• Dilated Cardiomyopathy (DCM)
• Restrictive Cardiomyopathy (RCM)
• Arrhythmogenic Right Ventricular Dysplasia (ARVD)
• Left Ventricular Non-compaction (LVNC)
• Familial Hypercholesterolemia (FH)

When should you get genetic testing for heart disease?

• Patients with heart defects present since birth
• Unexplained cardiac arrest or sudden deaths in the family that might have been caused by an undiagnosed heart disease
• Enlarged heart
• Heart failure at less than 60 years of age
• Irregular heartbeat
• Early heart attack, coronary artery disease, or stroke
• Enlarged aorta or aortic aneurysm in the chest at less than 55 years of age
• Sudden infant death syndrome (SIDS) in the family
• High cholesterol level

Who needs to get cardiovascular genetic testing?

• Individuals presenting with symptoms of cardiovascular disease
• Individuals with a family history of CAD or familial hypercholesterolemia or other cardiovascular diseases
• Individuals with high lifestyle risk i.e. with hypertension, diabetes, smoking habits, alcohol consumption, stressful lifestyle, etc
• All individuals above the age of 35 years, with comorbidities like hypertension, diabetes, or elevated blood cholesterols

Results can be life-saving as genetic test results can direct and improve patient treatment, management, and target surveillance for cardiovascular complications. 

• They can help determine if an individual carries a disease-causing variant associated with a heritable risk to develop cardiomyopathy
• This provides valuable information to the patient and their family about future medical management
• Genetic testing for cardiovascular disease can differentiate hereditary cardiomyopathy/channelopathy from other genetic and non-genetic heart conditions

Cardiovascular Pharmacogenomics

• Pharmacogenetics involves applying DNA sequence data to predict drug response, and also to drug discovery and development
• It helps prescribe the right drug and dosage to the patient
• Significant interpatient variability in drug response can be attributed to genetics
• A person’s genotype can influence drug metabolism, drug transport, and sensitivity to a drug
• Sufficient guidelines describing the use of genetic information are now available to guide treatment with these therapies