Genetic Breakthrough to Target Care for Deadly Heart Condition
This ground-breaking discovery, which may be the biggest advance in our knowledge of the genetic basis of the disease in 25 years, will help doctors better predict which family members need to be monitored for the condition and which can be ruled out from further tests or treatment.
Hypertrophic cardiomyopathies (HCM), otherwise called congenital cardiomyopathies are progressive diseases in which the heart myocytes are abnormal and fail to properly conduct myocardial action. Common symptoms include chest pain, dyspnea, palpitations, syncope and, occasionally, sudden death brought on by ventricular fibrillation or cardiac arrest. The cause of congenital cardiomyopathies is unknown; however, genetic studies have linked it to the disorder known as familial cardiomyopathies.
Research from British Heart Foundation (BHF) recently published in Nature Genetics found, “a new type of of genetic change in the DNA of people with HCM – a silent killer among families and can cause sudden death in young people due to the thickening of the heart muscle.
According to the study, “For over 25 years, scientists have known that HCM is caused by ‘rare’ genetic faults in the machinery responsible for helping the heart muscle to contract and pump blood around the body. However, researchers and cardiologists have never been able to explain why the condition is so varied amongst family members who have the same rare mutation and why some people without these mutations still go on to develop HCM.”
However, part of that mystery has been solved by genetics. Professor Hugh Watkins and his team from the Radcliffe Department of Medicine at the University of Oxford have discovered that tin inheritance of the a different type of genetic fault – called ‘common variants’ – not involved in the contractile machinery, form the missing piece of the puzzle.
BHF Professor Hugh Watkins, Radcliffe Professor of Medicine and Director of the BHF Centre of Research Excellence, University of Oxford, said:
“It’s now time we think differently about the way this hidden heart condition is detected and treated.
The team went on to state:
“We now have a new genetic tool that we believe will better predict which members of affected families will have a bad form of the disease, identifying those who need early intervention. It will also take away the worry for many families as it enables us to identify those who are unlikely to pass faulty genes onto their children. This will reduce the need for unnecessary genetic testing and regular follow-ups.”
“This research is a major step forward in our understanding of the genetics that underpin hypertrophic cardiomyopathy. It will revolutionize the way we screen people who have family members with this silent killer.”
The impact of this research will be far reaching. Another, example of how greater understanding of genetics is driving personalized medicine.
What does this mean for you?
Do you have a personal diagnosed hereditary heart condition or suspect you may? Does someone in your family have cardiac issues? Cardiac genetic testing can help you understand your risk and is becoming a staple in a balanced approach to fighting heart related issues.
Vita Medical Solutions offers cardiovascular genetic testing. Mutations associated with inherited cardiovascular diseases and sudden cardiac death can be detected through cardiac genetic testing. This type of testing presents an in-depth look at an individual’s increased risk for various cardiac conditions such as:
- Heart Disease
Don’t let the first sign be a heart attack or stroke.
Vita Medical Solutions can work directly with your Primary Care Physician. With qualifying insurance, this test can cost you nothing out of pocket. To schedule a call with one of Vita Medical’s Patient Service Consultants – Click Here.
Test. Know. Educate. Advocate.
Read full article here: https://medicalxpress.com/news/2021-01-genetic-breakthrough-deadly-heart-condition.html