Cardio Scout is a genetic test for three types of cardiovascular diseases: cardiomyopathies, arrhythmias, and aortic vascular diseases

These diseases can cause significant adverse effects to the function of the cardiovascular system. Some variants that cause these diseases can be inherited, or passed down in families. People with these diseases are at an increased risk for sudden cardiac death, a serious and potentially fatal complication if not treated immediately.

Fortunately, if detected, inherited heart conditions can be successfully managed.

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cardiomyopathies

Cardio Scout can detect some genetic causes for the following:

Cardiomyopathies: diseases that cause the heart muscle to be weak or too thick

Arrhythmias: diseases that affect the way the heart beats

Aortic Vascular Disease (Aortopathy): diseases that can cause damage to the aorta, the blood vessels that deliver oxygen rich blood from the heart to the rest of the body

1 in 500 (~650,000) people have hypertrophic cardiomyopathy.
The rate is even higher among athletes

36% of all sudden cardiac death (SCD) cases among athletes below 35 years old are due to hypertrophic cardiomyopathy. 1

athletes
Heart-Disease

A family history of heart disease is a risk factor for SCD 2

If someone in your family has suffered from an unexpected sudden death or has been diagnosed with a cardiac disease, you may be at risk and benefit from proactive testing and guidance from a heart specialist (cardiologist).


If a pathogenic (disease-causing) variant is found, it may be beneficial for other family members to get tested as certain cardiac diseases run in families.

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Medical experts agree:
When a relative with a variant is identified, the first-degree relatives (parents, siblings, and/or childen) should consult with cardiologists and genetic counselors at experienced genetic evaluation centers.3

Knowing your genetic risks can make all the difference

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Most diseases are driven by a complex mix of multiple genes and the environment. If testing identifies a genetic variant known to cause certain cardiac diseases, there may be up to a 50% (or 1 in 2) chance that the individual’s parents, siblings, and children also inherited the same variation.

Cardiac diseases caused by inherited variants can affect people of all ages, genders, and ethnicities

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Be proactive. It’s never too early to know as much as possible about your health risks. 4, 5

Cardio Scout Tests For the Following
9 Inherited Cardiac Diseases

Aortic Vascular Disease

  • Ehlers-Danlos Syndrome

    "Ehlers-Danlos syndrome (EDS) is a group of inherited diseases that affect the body's connective tissues (skin, joints, and blood vessel walls). In severe cases, EDS may cause a rupture in a blood vessel, intestine, or uterine wall. Some signs and symptoms of EDS include overly flexible joints, stretchy and fragile skin, thin translucent (see through) skin, small earlobes, and big eyes."

  • Familial Thoracic Aortic Aneurysm

    "Familial thoracic aortic aneurysm (FTAD) is a rare disease that affects the large blood vessel that moves blood from the heart to the rest of the body (aorta). Those with FTAD typically have weakened or enlarged aorta walls. This makes them more likely to tear, causing decreased blood flow to other parts of the body. The biggest danger is that there may not be any symptoms of FTAD"

  • Loeys-Dietz Syndrome

    "Loeys-Dietz syndrome (LDS) is a rare disease that weakens the body's connective tissues (skin, joints, and blood vessel walls). This weakening can cause small tears in the main artery of the body causing it to rupture. A rupture is a serious complication that can lead to death if it is not caught and treated early. Other symptoms of LDS include clubfeet and problems with the bones and joints."

  • Marfan Syndrome

    "Marfan syndrome is a disease that weakens the body's connective tissues (skin, joints, and blood vessel walls). People with Marfan tend to be tall and thin with long arms, legs, fingers, and toes. They can have loose, flexible joints. They may also have weak blood vessels that can cause the large vessel that provides blood to the rest of the body (aorta) to tear (dissect), a potentially life-threatening complication."

Arrhythmias

  • Brugada Syndrome

    "Brugada Syndrome is a genetic disease that can lead to a ventricular arrhythmia, abnormal rhythms in the bottom two chambers of the heart. Complications from this syndrome usually happen when a person is resting or sleeping."

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a type of abnormal heart rhythm, or arrhythmia. It occurs when the lower chamber of the heart beats too fast."

  • Long QT Syndrome

    "Long QT syndrome is a genetic disease that can lead to ventricular arrhythmia, an abnormal rhythms in the bottom left chamber of the heart. People with this disease have an abnormal heartbeat pattern that can usually be seen on an electrocardiogram (ECG)."

Cardiomyopathies

  • Arrhythmogenic Right Ventricular Dysplasia

    "Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a disease that affects the muscle of the right lower chamber of the heart. In this rare type of cardiomyopathy, the muscle tissue dies and is replaced with fatty tissue and scar tissue. This causes the heart to beat abnormally."

  • Dilated Cardiomyopathy

    "Dilated Cardiomyopathy is a disease that affects the lower left chamber of the heart. The heart muscle becomes enlarged, making it more difficult for the heart to pump blood effectively."

  • Fabry Disease

    "Fabry disease is genetic disease caused by the lack of a necessary enzyme (alpha-galactosidase A) that helps the body break down a certain types of fat. Because the body cannot break down this fat properly, it builds up in the body's cells which causes damage and leads to the symptoms see in Fabry disease. Common symptoms include difficulty breathing, chest pain, and fainting. Complications of Fabry disease can include progressive kidney and heart damage, which can lead to heart failure or even sudden death."

  • Hypertrophic Cardiomyopathy

    "Hypertrophic cardiomyopathy is a disease that affects the heart muscle causing it to become abnormally thick. This thickening makes it more difficult for the heart to pump blood efficiently, which can lead to problems with the blood getting to the rest of the body, leading to a sudden cardiac arrest."

The Cardio Scout Test Has Two Possible Outcomes

  •  
    No mutation found No variant was found in the cardiac genes tested for this product. If you do not already have a personal or family history of a cardiac condition, you have the same chance to develop the cardiac condition and heart disease as the general population. If you do have a personal or family history of a cardiac condition, you may want to consult with your physician or a genetic counselor.
  •  
    Pathogenic Likely pathogenic and pathogenic variants have very strong and definitive scientific evidence linking them with disease respectively. The detection of this type of variant in a cardiac condition means you have a high risk for heart disease resulting from the cardiac condition. We recommend that you consult with your physician or a genetic counselor.

References

  1. Maron BJ, Doerer JJ, Haas TS, Tierney DM, Mueller FO. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980–2006. Circulation. 2009;119(8):1085–1092.
  2. Sudden Cardiac Death (Sudden Cardiac Arrest): Risk Factors https://my.clevelandclinic.org/health/articles/sudden-cardiac-death/risk-factors
  3. Michael JA. et al. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA), EP Europace, Volume 13, Issue 8, 1 August 2011, Pages 1077–1109.
  4. How to Help Prevent Heart Disease - At Any Age. American Heart Association. http://www.heart.org/HEARTORG/HealthyLiving/How-to-Help-Prevent-Heart-Disease---At-Any-Age_UCM_442925_Article.jsp
  5. Prevention of Cardiovascular Disease: Guidelines for assessment and management of cardiovascular risk. World Health Organization. ISBN9789241547178. http://www.who.int/cardiovascular_diseases/guidelines/Full%20text.pdf