Hereditary Heart Disease

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Cardiovascular Disorders
In 1964, President Lyndon B. Johnson proclaimed February American Heart Month as a way to increase awareness of heart diseases. Heart disease, also known as cardiovascular disease, is a broad term that describes a phenotypically and genetically heterogeneous group of diseases that impair the function or structure of the heart or both. Heart disease is the leading cause of death worldwide, accounting for 31% of all deaths (Cardiovascular Diseases). Environmental and behavioral factors are important aspects in the development of cardiovascular disease, but heredity plays a role as well.

Some forms of heart disease have a strong genetic component. These inherited cardiovascular disorders include cardiomyopathies and cardiac arrhythmias. Cardiomyopathies are disorders of the heart muscle that cause structural and functional changes in the heart. Arrhythmias are disorders where heartbeat is irregular and are a feature of some cardiomyopathies, but arrhythmia disorders also occur without any structural abnormalities (Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, etc.). Genetic heart diseases are primarily inherited in an autosomal dominant fashion but autosomal recessive or X-linked inheritance also occurs. Incomplete or age-related penetrance and variable expressivity are often observed in inherited cardiovascular disorders. (Charron et al. 2010). Individuals with cardiomyopathies or cardiac arrhythmias are at a higher risk of sudden cardiac arrest, so early detection of these conditions is invaluable (Refaat et al. 2015).

National Wear Red Day
The first Friday of February is celebrated as National Wear Red Day—a day dedicated to focusing attention on cardiovascular disease. The American Heart Association created this event as a part of their initiative to increase women’s heart health awareness. Many unique factors contribute to women having an increased vulnerability to heart disease and stroke (Know Your Risk). The sooner a person knows their heart disease risk, the sooner they can begin taking preventive measures or steps to mitigate their risk.

This year Wear Red Day will be Friday, February 7. Join us in raising awareness of heart disease and stroke by wearing something red and sharing a photo on social media with #WearRedAndGive.

Learn more on the Go Red for Women website.

Congenital Heart Defect (CHD) Awareness Week
Congenital heart defects (CHDs) are the most common birth defect, occurring in 6 to 10 of 1,000 live births, and are a major cause of infant morbidity and mortality (Hoffman and Kaplan J Am Coll Cardiol). In the US, there are ~2-4 million individuals living with a CHD, and even though nearly 25% have undergone surgery, they still live with the condition under specialized care and medication (Brown).

While the cause of congenital heart defects is not always clear—CHDs have genetic and non-genetic causes—early detection has proven to help prevent complications later in life.

During Congenital Heart Defect Awareness Week, observed February 7 - 11, 2020, individuals are encouraged to help raise awareness and education about CHDs through coordinated events and using the #CongenitalHeartDefectAwarenessWeek hashtag.

Genetic Testing
Genetic testing for inherited cardiovascular diseases is useful in multiple situations, including the diagnosis of some disorders. Although many inherited cardiovascular diseases can be diagnosed clinically, some conditions, such as long QT syndrome, include detection of a pathogenic variant as part of their diagnostic criteria. Other conditions that cause similar phenotypes may be able to be distinguished through genetic testing. An accurate diagnosis in such cases allows appropriate disease management and genetic counseling (Cirino et al. 2017).

The ability to perform predictive genetic testing in relatives is another important benefit of genetic testing for individuals with inherited cardiovascular disorders. Family members who appear to be healthy may carry the same genetic variant as their affected relative and be at risk of developing the disease in the future. Since therapeutic options, including lifestyle modifications, pace makers, or drug therapy, are available to delay disease onset or prevent complications, early detection is critical even in asymptomatic individuals (Charron et al. 2010). Genetic testing has the highest utility for individuals with a definitive diagnosis and a family history of disease, and should also be considered if the results may impact medical management of the patient or their family members (Cirino et al. 2017).

PreventionGenetics’ Cardiovascular Disorders Tests
PreventionGenetics offers over 28 genetic testing panels focused on cardiovascular disorders. These include our Comprehensive Cardiology Panel, Pan Cardiomyopathy Panel, and Comprehensive Cardiac Arrhythmia Panel. Review all our genetic testing panels for hereditary heart disease here.

We also offer several cardiovascular starter panels within our Custom Panels tool, allowing providers the opportunity to customize testing based on their patients’ specific needs.

Brown J. ICYMI: February 8 – 14th was CHD Awareness Week. You're the Cure. Accessed January 15, 2020.
Charron et al. 2010. PubMedID: 20823110
Cirino et al. 2017. PubMed ID: 28793145
Hoffman and Kaplan. 2002. PubMed ID: 12084585
Know Your Risk. Accessed January 10, 2020.
Refaat et al. 2015. PubMed ID: 26026997
Cardiovascular Diseases. World Health Organization. Accessed January 21, 2020.