Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Irregular heartbeat linked to genetic mutation

26.02.2007
Every day for 10 years, a seemingly heart-healthy 53-year-old woman experienced rapid and irregular heartbeats. She had no personal or family history of hypertension or hyperthyroidism. She did not suffer from myocardial or coronary artery disease, or any abnormalities of the heart as best doctors and medical science could determine. Yet, she complained of heart palpitations and dizziness nearly to the point of fainting.

For the patient in this case study, her symptoms first appeared 10 years ago and they persisted through the years. The symptoms peaked in the morning and occurred more frequently as time went on. Doctors prescribed medication, but it proved to be ineffective.

As a next step, Mayo Clinic physician researchers explored and confirmed the presence of a genetic mutation that clearly established an inherited predisposition to atrial fibrillation.

Their study findings appear in the February issue of Nature Clinical Practice Cardiovascular Medicine (http://www.nature.com/clinicalpractice/cardio).

"Why certain patients develop atrial fibrillation while others do not, despite comparable environmental stress exposure, might ultimately depend on their genetic makeup," the authors write.

Atrial fibrillation is recognized more often in the elderly who have underlying structural heart disease. But in this study, Mayo Clinic researchers address the gene-based form of atrial fibrillation that affects younger people who do not otherwise harbor risk factors for the disease. The case was compared to 2,000 individuals who did not carry the mutation or suffer from atrial fibrillation.

The Mayo Clinic study is the first to identify an atrial fibrillation-associated genetic mutation of the ATP-sensitive potassium (KATP) channel. Researchers uncovered its role as a safeguard against atrial arrhythmia under stress conditions. The fail-safe mechanism present in most people to provide electrical stability to the heart under stress was defective in this patient. The sequencing of KATP channel genes, using genomic DNA extracted from the patient's peripheral white blood cells, revealed a genetic mutation.

The discovery of the genetic mutation's role in contributing to atrial fibrillation may ultimately improve physicians' ability to identify patients who have a hereditary predisposition to atrial fibrillation, which is often complicated by increased risk for stroke and heart failure.

"Our findings support the emerging understanding of atrial fibrillation in younger patients as an inherited disease of ion channels, the building blocks of electrical pathways," says Timothy Olson, M.D., a pediatric cardiologist and lead author of the study.

Because medications were ineffective in this case, the Mayo Clinic team treated the woman's atrial fibrillation by targeting high-energy radio waves to an area of the atrium -- an upper heart chamber -- most vulnerable to stress-induced electrical instability. This approach highlights the capacity to successfully treat patients who have genetic forms of atrial fibrillation.

"This case is a fine example of individualized medicine in practice, highlighting the benefit of translating molecular technology into an understanding of disease processes in the clinical setting," says Andre Terzic, M.D., Ph.D., a cardiologist and senior author of the study.

Amy Reyes | EurekAlert!
Further information:
http://www.mayo.edu
http://www.mayoclinic.com

More articles from Health and Medicine:

nachricht Norovirus evades immune system by hiding out in rare gut cells
12.10.2017 | University of Pennsylvania School of Medicine

nachricht Flexible sensors can detect movement in GI tract
11.10.2017 | Massachusetts Institute of Technology

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Ocean atmosphere rife with microbes

17.10.2017 | Life Sciences

Neutrons observe vitamin B6-dependent enzyme activity useful for drug development

17.10.2017 | Life Sciences

NASA finds newly formed tropical storm lan over open waters

17.10.2017 | Earth Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>