A study by a global consortium of physician-scientists has identified a genetic variation that may predispose people to double the risk of having a sudden cardiac arrest, a disorder that gives little warning and is fatal in about 95 percent of cases. Although previous, smaller studies have identified some genes with a potential association with sudden cardiac arrest, this is the first study large enough to enable scientists to apply results to the general population. Findings are published today by the Public Library of Science (PloS Genetics).
“We are at the beginning of unraveling the mystery of what causes sudden cardiac arrest and how to prevent it,” said senior author Sumeet S. Chugh, MD, associate director of the Cedars-Sinai Heart Institute and a specialist in cardiac electrophysiology. “If we wait until someone has a sudden cardiac arrest, it is usually too late for treatment. That is why knowing who is genetically susceptible is so important.”
Unlike heart attacks (myocardial infarction), which are typically caused by clogged coronary arteries reducing blood flow to the heart muscle, sudden cardiac arrest is the result of defective electrical impulses. Patients may have little or no warning, and the disorder usually causes nearly instantaneous death. Every year, 250,000 to 300,000 people in the U.S. and up to 5 million worldwide die from sudden cardiac arrest.
Despite years of significant advances in emergency medicine and resuscitation, just five percent of those who suffer sudden cardiac arrest survive. For patients at known risk for this or other heart rhythm abnormalities, an implantable cardioverter-defibrillator (ICD) may be placed in the chest or abdomen to detect faulty electrical impulses and provide a shock to return normal rhythm. Better genetic predictors of risk may someday enable the accurate prediction of which patients are most likely to benefit from costly ICD therapy.
The discovery came from a genome-wide association study, which examines the entire set of human genes to detect possible links between genetic variations and specific conditions or diseases. In this study, researchers from the Cedars-Sinai Heart Institute, Johns Hopkins University School of Medicine, along with researchers from the National Institutes of Health, Harvard University, Wake Forest University School of Medicine, Oregon Health and Science University, Finland, Canada and the Netherlands compared the genetic makeup of 4,402 subjects who had experienced sudden cardiac arrest to the DNA of 30,000 control subjects who had no history of the disorder.
Based on a comparison of the two groups, a genetic variation in the BAZ2B gene was found to be associated with a significantly increased risk of sudden cardiac arrest.
“If you have this genetic variation in your DNA, it appears that you may have a two-fold higher likelihood of sudden cardiac arrest,” said Chugh, the Pauline and Harold Price Chair in Cardiac Electrophysiology Research.
The researchers also studied the link between other genetic variations that account for EKG abnormalities and were able to pinpoint several that can also be used for improving the prediction of sudden cardiac arrest in the community.
The Cedars-Sinai Heart Institute is internationally recognized for outstanding heart care built on decades of innovation and leading-edge research. From advanced diagnostics to catheter-based and surgical treatment of complex heart problems to the training of the heart specialists of tomorrow; and research that is deepening medical knowledge and practice, the Cedars-Sinai Heart Institute is known around the world for excellence and innovations.
Sally Stewart | Cedars-Sinai News
WAKE-UP provides new treatment option for stroke patients | International study led by UKE
17.05.2018 | Universitätsklinikum Hamburg-Eppendorf
First form of therapy for childhood dementia CLN2 developed
25.04.2018 | Universitätsklinikum Hamburg-Eppendorf
So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics
Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...
The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...
A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.
The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...
Cardiovascular tissue engineering aims to treat heart disease with prostheses that grow and regenerate. Now, researchers from the University of Zurich, the Technical University Eindhoven and the Charité Berlin have successfully implanted regenerative heart valves, designed with the aid of computer simulations, into sheep for the first time.
Producing living tissue or organs based on human cells is one of the main research fields in regenerative medicine. Tissue engineering, which involves growing...
A team of scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg investigated optically-induced superconductivity in the alkali-doped fulleride K3C60under high external pressures. This study allowed, on one hand, to uniquely assess the nature of the transient state as a superconducting phase. In addition, it unveiled the possibility to induce superconductivity in K3C60 at temperatures far above the -170 degrees Celsius hypothesized previously, and rather all the way to room temperature. The paper by Cantaluppi et al has been published in Nature Physics.
Unlike ordinary metals, superconductors have the unique capability of transporting electrical currents without any loss. Nowadays, their technological...
02.05.2018 | Event News
13.04.2018 | Event News
12.04.2018 | Event News
18.05.2018 | Power and Electrical Engineering
18.05.2018 | Information Technology
18.05.2018 | Information Technology