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The Heartbeat of Cardiac Genetics Testing: Why Physicians and their Patients Should Take Testing to Heart

Posted by Alex Metarelis on Apr 30, 2021 4:28:46 PM

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The mighty, powerful heart: a small 8- to 10-ounce fist-size muscle that beats about 100,000 times every day to send 2,000 gallons of oxygen-rich blood through 60,000 miles of blood vessels.

As the unmistakable wellspring of life, heart health is paramount, making these statistics highly startling about heart disease, which is:

The leading cause of death in the United States, accounting for 1 in every 4 deaths

The biggest killer of women worldwide

The leading cause of death for both men and women

The general public widely associates heart disease with an unhealthy lifestyle. While that is certainly true in many cases, there also are a number of genetic heart conditions that can be passed down from generation to generation since genes are involved in all aspects of the cardiovascular system.

  • Genetics control the blood vessel strength
  • Genetics control the way heart cells communicate
  • One gene mutation can affect the likelihood of developing heart disease

At the root of many inherited cardiac conditions is a change, alteration or disorder in a single gene or abnormalities in the genome – a mendelian disorder. Cardiac conditions tied to this disorder include cardiomyopathy at a young age, hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia.

Inherited Heart Disease Risk Factors 

Like a warning sign on the roadway that alerts you to a potential condition ahead, one or more of the following issues in a patient’s personal and family medical history serves as a warning that special attention is required.

Heart failure                                                Aortic disease                       

Sudden deaths before age 40          Heart disease before age 40

Enlarged heart                                           Irregular heartbeat                          

Fast heart rate or palpitations          Heart transplant

Pacemaker                                                   Defibrillator

Excessively high cholesterol              History of strokes

SIDS                                                                  Fainting episodes or dizziness

Muscle or skeletal disorder                 Unexplained therapy-resistant seizures

What Cardiac Genetic Testing Does 

Cardiac genetic tests look for gene sequence variants that are red flags for increased risk. There are ≈30 sites in a patient’s DNA sequence that can be identified with an increased risk of heart attack. A patient might have zero variants, one copy of the variant or two copies of the variant. The more variant copies a patient has, the higher that patient’s risk for heart attack. Tests vary from lab to lab, and Diax Labs offers a panel that includes all genes known currently to be associated with the development of inherited cardiovascular diseases that can present as sudden death or other major adverse events. You also can order disease-specific panels, which Diax Labs offers, as detailed below.

Comprehensive Cardiac Disease Assessment 

  • Provides an in-depth look at a patient's overall cardiac health 
  • Diagnose Increases the detection of sub-clinical coronary artery disease 
  • Identifies the risk of artery wall Atherosclerotic Disease activity and Coronary Artery Disease
  • Contains a comprehensive arrhythmia and cardiomyopathy risk evaluation

 Comprehensive Arrhythmia Panel 

  • Diagnoses cases in which a clearly defined phenotype cannot be established but in which cardiac arrhythmia is the main indication

Comprehensive Cardiomyopathy Panel

  • Diagnoses cases in which there is an apparent degree of myocardial involvement but without a completely clear phenotype or with diagnostic uncertainties
  • Identifies when there is an overlap between phenotypes in the patient or family
  • Is a predictive test when a pathogenic mutation is detected

 Comprehensive Atherosclerosis and Diabetes Risk Panel

  • Tests for a patient’s risk for coronary artery disease, other vascular diseases and diabetes, including early detection of Maturity-Onset Diabetes of the Young (MODY)

Tremendous advances have been made in the field of cardiac genetics testing, and physicians are now ordering in increasing frequency a simple blood test to determine a patient’s risk for genetic cardiac issues.

Inherited High Cholesterol Risk Factors  

Similar to genetically predispositions to certain heart diseases, high cholesterol can also be genetic: familial hypercholesterolemia tied to family history and ethnicity risk factors.

Familial hypercholesterolemia impacts about 1.3 million people in the United States, making them five times more likely to develop heart disease because of a gene mutation that prevents the body from clearing low-density lipoprotein (LDL “bad cholesterol”). Cholesterol then accumulates in the bloodstream, builds up on artery walls, causing atherosclerosis (hardening of the arteries) and potentially stroke or heart attack. Notably, certain ethnicities and racial groups have a higher rate of familial hypercholesterolemia, including Dutch, Finnish, French Canadian and Lebanese descendants.

Genetics and Maturity-Onset Diabetes of the Young 

A mutation in a single gene caused by Type 1 or Type 2 diabetes causes MODY. This gene is passed on from parent to child generation after generation. The resulting Autosomal Dominant Inheritance creates a 50% chance that the child of a parent with the mutated gene will develop on of the four types of MODY.

Early detection is critical because three of these – HNF1-alpha, HNF4-alpha and HNF1-beta – carry long-term risks. The fourth type, glucokinase, causes a mild yet chronic increase in blood sugar that’s asymptomatic.

Key Takeaways  

Testing, Results and Information Sharing 

  • Heart disease is the leading cause of death in the United States, accounting for 25% of all deaths.
  • As with all diseases and conditions, the identification of high-risk factors, targeted testing and early diagnosis are paramount to ensure necessary lifestyle changes and treatments.
  • Cardiac genetic testing is being used increasingly by cardiologists seeking a more personalized approach to patient care, family and medical doctors seeking greater insight into cardiovascular and diabetic conditions, and endocrinologists seeking a thorough cardiovascular risk assessment.
  • Genes are at the foundation of this science, and information sharing with family members who also might have inherited a genetic variant can be highly beneficial and potentially life saving.

Here to Assist You 

Diax Labs is one of few laboratories offering comprehensive cardiac genetic testing and targeted disease-specific panels. Our wet lab test results are backed by a dry software report that arms physicians and patients alike with an extensive yet understandable data interpretation.

 If you are an independent physician, a distributor or laboratory sale professional that sells to independent physicians, we appreciate the opportunity to talk with you one on one about Diax Labs’ comprehensive and disease-specific cardiac genetic tests. To learn more or to schedule a presentation, please click the button below.

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Topics: Blog