The Big 3 at the Heart of the Matter: Keeping a pulse on cardiac care

Posted by Sara Carpenter on Jun 10, 2020 2:28:09 PM
Sara Carpenter
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Genetic predisposition to certain cardiac conditions. Genetic predisposition to treatment options. Appropriate response to treatment. These are the big three patient care issues cardiologists and family care physicians face every day. While these issues can be addressed separately, a more global oversight for cardiac patient care is trending in healthcare.

Let’s first dissect these three issues, and then connect the dots to showcase how they interplay with a revolutionary testing solution.

Inherited Heart Disorders

Clinical and large-scale population-based epidemiology studies confirm that genetics play significant roles in coronary artery diseases (CAD) and myocardial infarction (MI), more commonly known as a heart attack.

Here’s what we know for certain:

  • CAD is widely accepted to have a heritability of 50-60%.
  • There is a strong independent association among family, parental history of CAD and MI, and the occurrence in offspring.
  • These genetic factors are independent of traditional risk factors (TRF) for the disease. TRFs – hypertension, diabetes mellitus, hypercholesterolemia, low physical activity, obesity, C-reactive protein, plasma homocysteine and tobacco use – have their own complex genetic components with individual heritability values.

    High-stakes Genetics

    Genetics play a high-stakes role in a patient’s predisposition to cardiac diseases, predisposition to treatment options and response to the treatment plan.

Cardiac genetic testing identifies mutations associated with inherited cardiovascular diseases and sudden cardiac death in four key categories.

Atherosclerosis is caused by the buildup of cholesterol and inflammatory cells in the artery walls, which restricts blood flow. Atherosclerosis is the leading cause of heart attacks, strokes and peripheral vascular diseases.

Aortic Aneurysms are broadly classified by their anatomic involvement of the thoracic (TAA) or abdominal aorta (AAA). TAAs are generally associated with a genetic cause, while AAAs are thought to be related to atherosclerosis.

Inherited Cardiomyopathies are diseases of the heart muscle and are among the most common genetic disorders.

Inherited Cardiac Arrhythmia Disorders (Channelopathies).

Hereditary heart diseases associated with arrhythmia or a structurally normal heart are usually of autosomal dominant inheritance, affect otherwise healthy persons and can generally be treated if recognized early. Among the most common of these diseases are Long QT syndrome (LQTS), a condition in which repolarization of the heart after a heartbeat is affected, and Brugada syndrome, a genetic disorder in which the electrical activity within the heart is abnormal.

Patient Predisposition to Treatment Options

Blood thinners are frequently prescribed as part of the patient treatment plan to aid in blood flow, prevent blood clots from forming or getting bigger, and treat certain heart diseases or heart defects. Commonly prescribed blood thinners include, Plavix, Rivaroxaban ad aspirin.

And, of course, there is an extensive range of other types of medications prescribed for cardiac care, including statins, beta blockers, and medications for blood clot prevention, hypertension, and high blood sugar. Among these:

  • Statins such as atorvastatin (Lipitor), lovastatin acid (Mevacor, Altoprev, Altocor), pitavastatin (Livalo), rosuvastatin (Crestor) and simvastatin acid (Zocor, FloLipid) are prescribed to lower LDL cholesterol.
  • Clopidogrel (Plavix) and warfarin (Coumadin, Jantoven) are prescribed to prevent blood clots.
  • Beta blockers such as metoprolol (Lpressor, Toprol XL, Kapspargo Sprinkle), atenolol (Tenormin) and propranolol (Inderal LA, InnoPran XL, Hemangeol Inderal XL, Inderal, Propranolol HCI Intensol) are used to lower blood pressure and to treat chest pain and irregular heartbeat.
  • Antihypertensives include lisinopril (Prinivil, Zestril, Qbrelis), irbesartan (Avapro), valsartan (Diovan), verapamil (Calan, Calan SR, Verelan, Verelan PM, Isoptin SR, Covera-HS, Isopti I.V., Isoptin), amlodipine (Norvasc, Twynsta, Azor, Prestalia, Katerziadiltiazem (Cardizem, Matzim LA, Tiazac, Cardizem CD, Cardizem LA, Taztia XT, DILT-XR, Cartia XT, Dilacor XR, Dilt-Cd, Diltia XT, diltiaZEM HCl Novaplus, Diltzac, PremierPro Rx Diltiazem HCl, Amerinet Choice Diltiazem Hydrochloride).
  • Hypertension also is treated with hydrochlorothiazide (Microzide, Hydrocot, Zide, Aquazide H, Atacand HCT, Accuretic, Uniretic, Quinaretic, Timolide 10-25) and clonidine (Duraclon (PF), Catapres-TTS-2, Catapres-TTS-3, Catapres-TTS-1).
  • Drugs that control high glucose level in diabetic patients include glyburide (DiaBeta, Micronase, Glynase, Clynase PresTab), empagliflozin (Jardiance), glipizide (Glucotrol, Glucotrol XL), pioglitazone (Actos, Oseni) and metformin (Glucophage, Glumetza, Fortamet, Riomet, Glucophage XR).

Genetics play a significant role in how drugs are metabolized. A patient’s genotype for certain drug metabolizing enzymes determines if they are a poor metabolizer or rapid metabolizer of medications that they take (pharmacogenetics). Dependent on whether the drug is activated or inactivated by the enzymes, poor or rapid metabolizer patients can be predisposed to an increase risk of drug toxicity or a decrease in drug effect due to rapid inactivation of drugs from the body. For example, 30% of the population lacks enough activity for cytochrome P450 (CYP2C19) and cannot convert Plavix into its active form. As a result, Plavix in these patients will be ineffective. Another example is to modify the dose of warfarin based on genotyping of two metabolizing enzymes – CYP2C9 and VKORC – that can reduce the risk of toxicity for the patients.

Response to Treatment Plan

Serum levels of medications are determined by several factors such as a patient’s compliance, bioavailability of drugs, genotype of drug metabolizing enzymes and liver and kidney function. Because every patient is unique, the serum level of drugs can be hard to predict and can vary significantly among patients. The best approach for making sure a patient receives the prescribed dose is to measure the concentration of the drug in a patient’s blood.

Connecting the Dots: CardietiX Personalized Medicine

Diax Labs created CardietiX specifically for cardiologists seeking a highly scientific approach for treating patients with cardiovascular diseases. CardietiX is the gold standard in personalized cardiac diagnostics and monitoring. Three cutting-edge diagnostic technologies are integrated into one service to create a data-driven personalized patient treatment plan.


Cardiac Genetic Testing

  • Ascertain a patient’s risk factors for inherited cardiovascular diseases through a test panel that includes 117 genes currently associated with the development of inherited cardiovascular diseases – cardiomyopathies, arrhythmias and channelopathies, and aortic vascular diseases
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PGx Testing

  • Understand a patient’s predisposition to treatment options when a certain risk factors exist, when multiple medications are prescribed, when a prescription for Clopidogrel (Plavix) will be initiated or when Xarelto, Eliquis, Pradex, Norvasc or anti-arrhythmic medications are being taken. Our unique PGx panel measures 20 genes, not all of which are related to cardiology drugs.
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EZ Drop CompliTM

  • Ensure a patient is responding appropriately to a treatment plan and have greater certainty about the metabolization of 31 cardiac medications
  • Learn more:


Key Takeaways

√ Better data leads to deeper insights, which lead to better treatment plans, which lead to better patient outcomes.

√ Diax Lab’s science-based solution is a wiser, more comprehensive option than a go-with-your-gut or one-size-fits-all treatment plan.

√ Patient outcomes are optimized through personalized treatment regimens designed around genetic risk factors, predispositions and monitoring of treatment efficacy.


Here to Assist You

Are you an independent physician or laboratory marketing professional that sells to independent physicians?

We welcome the opportunity to talk with you about Diax Labs’ three laboratory tests associated with cardiac care. To learn more or to schedule a virtual presentation, please click Learn More below.


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Topics: Blog