A new screening test for people at risk of sudden heart attack

American Journal of Human Genetics (2022). DOI: 10.1016 / j.ajhg.2022.05.002 “width =” 800 “height =” 530 “/>

Graphic abstract. Credit: American Journal of Human Genetics (2022). DOI: 10.1016 / j.ajhg.2022.05.002

A new study by the Victor Chang Heart Research Institute will allow families around the world to identify genetic mutations that cause sudden cardiac arrest – the disease kills 9 out of 10 victims.

Researchers at the institute have developed a new electrical test that can detect hundreds of gene mutations and accurately identify mutations that are harmful to the heart in people with inherited heart disease that can lead to sudden death.

This discovery is a major step towards the accuracy and precision of genetic testing, which has a profound effect not only on hereditary heart disease, but also on a wide range of neurological conditions, muscle and kidney disease.

Professor Jamie Vandenberg, who led the study, published the article twice on December 1, 2012 and on October 1, 2012. American Journal of Human Genetics“These hereditary heart diseases kill primarily healthy young people, and although the numbers are small, the consequences are long-lasting,” he says.

“When a person dies at a young age, at the best time of his life, it is not the death of a person. This effect is felt by family and their friends, and it lasts forever.”

Comrade writer Dr. Chai-Ann Ng of the Victor Chang Heart Research Institute says that the detection of these dangerous mutations will help prevent deaths from sudden cardiac arrest and treat more people with this life-threatening disease.

“If you can isolate the mutation and identify those at risk, people can change their lifestyle and use beta-blockers or defibrillators. Family members can also test themselves,” he said. Ng.

“Genetic sequencing has shown that we all have a wide range of genetic variants, but we have not always been able to say for sure whether these variants are dangerous or not, but they are different.”

“Thus, when genes are currently being tested, a clinical genetic laboratory may tell a patient,“ There is a virant, but we don’t know if it increases the risk of heart failure. This is of great concern not only to the patient but also to others. For the rest of the family that inherited the mutation. Now we can eliminate this uncertainty, this is a great development. “

basic statistics

  • Congenital arrhythmias account for more than half of the primary causes of sudden death in young people.
  • Each year, some 20,000 Australians have a heart attack outside the hospital. Only 10% of people survive non-hospitalized heart disease.

Professor Vandenberg’s team studied variants of proteins in genes that encode ion channels that control the movement of electrical signals between cells. Many of the genetic diseases that lead to the risk of sudden cardiac arrest are caused by these mutations.

Key findings

  • In the first study, they developed a rapid and accurate electrical test that assessed variants in the ion channel gene, which causes a condition called hereditary cardiac arrhythmia called Long QT syndrome. They are now classifying all known variants in this gene and determining which one. Harmless and dangerous and uploads the findings to a giant genetic database that is available to clinics around the world.
  • The test they developed can be easily adapted to test other genes for ion channels – not only due to sudden cardiac arrest, but also many other diseases, including neurological, kidney and muscle diseases.
  • In the second document, Professor Vandenberg and his team, Dr. To develop a new method based on Kroncke genome sequencing technology at Vanderbilt University Medical Center. This will allow them to assess the impact of each possible missense option on KCNH2, which represents approximately 22,000 options in one or two years.


According to Professor Vandenberg, they “hope that within five years, if someone undergoes a genetic test or gets a sequence of their genomes, they will immediately know that their variant is dangerous.”

“It’s amazing that we thought we could examine and diagnose family members anywhere in the world, not just in Australia. Ultimately, this genetic database will reduce the number of heart attacks and deaths from genetic disorders.”

“In the short term, this will be more beneficial for patients with cardiology who are at risk of sudden death. But in the long run, the study could be adapted to assess about 400 different ion channel genes in the human genome. With nerve disease, muscle and kidney problems.”

Recommendations for genetic testing for hereditary heart disease were released today

More information:
Jamie I. Vandenberg, Analysis of a Calibrated Functional Patch Valve to Interpret the Clinical Option in KCNH2-Related Long QT Syndrome, American Journal of Human Genetics (2022). DOI: 10.1016 / j.ajhg.2022.05.002

Chai-En Ng et al., Mass parallel analysis clearly distinguishes between functionally normal and abnormal variants in the KCNH2 domain, American Journal of Human Genetics (2022). DOI: 10.1016 / j.ajhg.2022.05.003

Presented by Victor Chang Institute of Cardiology

Quote: New screening test for those at risk of sudden cardiac arrest (June 9, 2022) Retrieved June 11, 2022 from https://medicalxpress.com/news/2022-06-screening-sudden-cardiac.html

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