Cardiac Genetic Testing

I am getting more and more information – almost daily  – on genetic testing. Just in the last 5 yrs+ we have moved from CYP-450 opiate metabolism testing https://www.practicalpainmanagement.com/treatments/pharmacological/opioids/making-practical-sense-cytochrome-p450

And in more recent years more and more info concerning pharmacogenomics 

https://www.mayo.edu/research/centers-programs/center-individualized-medicine/patient-care/pharmacogenomics/drug-gene-testing

And now Cardiac Genetic testing… given that my Father dropped dead of a heart attack at 56 y/o… and two of my Mom’s three Brothers had heart attacks in their 60’s. This one particular test has sure got my attention.

A friend sent this information to me and I am going to have to find out some more about this testing and I will be sharing what information that I can dig-up via this blog in the future.

Those chronic pain pts who require high or more frequent dosing of opiates to help with appropriate pain management should get the CYP-450 testing to validate that they are fast/ultra fast opiate metabolizer and should be able to be used in appealing their denial for their necessary high dosage.  These genetic/DNA testing is advancing so rapidly… many PCP, in particular, may not be “up to speed”.

Those who have been forced to reduce their opiate doses… should consider this cardiac test because cardiovascular problem are part/parcel of being thrown into cold turkey withdrawal and/or dealing with under/untreated pain. according to this information provided on Cardiac Genetic testing… many people may already predisposed to some genetic cardiovascular issue and being thrown into cold turkey withdrawal or have their pain management meds reduced without the pt being in agreement could be the “final cardiovascular straw” for such a particular pt.

 

Cardiac Genetic Testing

Mutations associated with inherited cardiovascular diseases and sudden cardiac death can be detected through our Lab’s exhaustive Cardiac Genetic Testing.

Our panel 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. Cardiac Genetic  Testing can be ordered in smaller, disease-specific panels or in one comprehensive panel.

→ Comprehensive Cardiac Disease Assessment provides an in-depth look at a patient’s overall cardiac health, increases the detection of sub-clinical coronary artery disease, identifies the risk for artery wall Atherosclerotic Disease activity and Coronary Artery Disease. The panel also contains comprehensive arrhythmia and cardiomyopathy risk evaluation.

→ Comprehensive Arrhythmia Panel is used primarily to diagnosis cases in which a clearly defined phenotype cannot be established but in which cardiac arrhythmia is the main indication.

→ Comprehensive Cardiomyopathy Panel is used to diagnose cases in which there is an apparent degree of myocardial involvement but without a completely clear phenotype or with diagnostic uncertainties; when there is an overlap between phenotypes in the patient or family; and also can be used as a predictive test when a pathogenic mutation is detected.

→ Comprehensive Atherosclerosis and Diabetes Risk Panel tests for a patient’s risk for coronary artery and other vascular disease, and diabetes, including early detection of Maturity-Onset Diabetes of the Young (MODY).

Startling Statistics

 90% of those with FH don’t know they have it. If left untreated:

Males have a 50% risk for heart attack by age 50

Females have a 30% risk for heart attack by age 60

Genetics and Familial Hypercholesterolemia

High cholesterol can be inherited, and patient risk for developing heart disease can be reduced by knowing important risk factors.

Family History. Any patient with a family history of high levels of LDL-C (bad cholesterol) may have a genetic variant that causes inherited high cholesterol, a condition known as Familial Hypercholesterolemia (FH) (or Type 2 Hyperlipoproteinemia). FH is highly prevalent in the United States, with 1.3 million people – 1 in 250 – having the condition and carrying and 20% increased risk of developing heart disease.

Ethnicity. While anyone with a close family member with FH or high LDL-C cholesterol levels is at risk, FH is particularly common among certain ethnic and racial groups, including those of French Canadian, Finnish, Lebanese and Dutch descent.

The Importance of an Early Diagnosis. FH is typically more severe, with higher cholesterol levels and heart disease at a significantly younger age, than non-genetic hypercholesterolemia. An early FH diagnosis can help patients make appropriate lifestyle adjustments and seek necessary treatments before the effects become permanent and irreversible. A diagnosis also is important to that patient’s family members at risk for the condition because the parents, siblings and children of a person who has the genetic variant that causes FH have a 50% chance of also having inherited that same genetic variant.

Who Orders Cardiac Genetic Testing?

Cardiologists

To offer their patients a more personalized medicine approach by detecting potential underlying genetic etiology of a condition

Family and Internal Medicine Doctors

To offer their patients and patient’s families more insight into cardiovascular and diabetic conditions

Endocrinologists

To offer diabetic patients a thorough cardiovascular risk assessment

 

Genetics and Maturity-Onset Diabetes of the Young

Our panel distinguishes MODY, a form of diabetes caused by a mutation or changes in a single gene, from Type 1 and Type 2 diabetes.  

Family History and The Importance of Testing. MODY runs in families, tied to a single gene that is passed on from parent to child – Autosomal Dominant Inheritance. Any child of a parent with the MODY mutation has a 50% chance of inheriting that affected gene and developing MODY. Of the four types of MODY – HNF1-alpha, HNF4-apha, HNF1-beta and glucokinase – the first three carry long-term risks that should be monitored by a physician.

One Response

  1. Our oldest son, 41 years old died December 2nd, 2020. He was a 14 year pain management patient because of surgeon incompetence. Supposedly a “simple”, one time surgery turned into a 4 year ordeal. From the local hospital to Duke hospital to Charlotte orthopedics. Screwed up surgery, infection, crippled….for life. Then forced “tapering” of medication. he had a “heart attack”. I always knew that forced tapering was so very hard, almost impossible for him and I watched his health decay, rapidly. He was a high school teacher. Bright, loved by his students ,he is now gone till we meet again. I am not a doctor but through talking with him and observing his health decay I KNOW that forced tapering had a very real, negative effect on his entire health. Gone but, never forgotten.

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