As a result, they have developed a unique prevention program in which people with no symptoms, but with a suspect gene and a family history, are being implanted with internal cardiac defibrillators (ICDs) which can restart their hearts if they stop.
"Our discovery has led to a targeted genetic screening and individualized therapy that is significantly improving survival rates," Dr. Sean Connors told the Canadian Cardiovascular Congress 2010, co-hosted by the Heart and Stroke Foundation and the Canadian Cardiovascular Society. "It's allowing people with the condition to live normal, longer lives. Individualized genetic therapies like this are the future of medicine."
The excitement among cardiologists concerns a rare genetic condition – arrhythmogenic right ventricular cardiomyopathy (ARVC).
"Newfoundlanders likely have the highest incidence in the world of this disease," Dr. Connors, a cardiologist and associate professor of medicine at Memorial University in Newfoundland, told the Congress.
The term arrhythmogenic refers to deadly cardiac rhythms that can be triggered by electrical impulses within the heart. Cardiomyopathy is a worsening condition where heart muscle is slowly replaced by scar and fat tissue.
The combination of the two is lethal, Dr. Connors says.
"People who are at risk often have no symptoms, so the first time we know they have this disease is when they die."
The surest sign that a disease is genetic in origin is when it is manifests itself in family histories, showing up in generation after generation.
"Our diagnostic testing showed that some members of these families have a specific, genetic, electrocardiogram (ECG) mutation – ARVD5," said Dr. Connors. There is a 50 per cent chance that children of those with the condition will also be carriers of the gene. It is considered the second-most common cause of sudden cardiac death in young people.
The mutation causes premature sudden cardiac death in males: 50 per cent die by age 40 years and 80 per cent by 50 years. For women the rate is five per cent and 20 per cent.
Given those figures, Dr. Connors realized nothing would be lost by implanting ICDs in asymptomatic patients with ARVD5 to maintain normal heart rhythms.
Earlier this year his team reviewed the data of the prevention program which they started in 1999. They concluded that implanted defibrillator treatment for primary prevention in both sexes, and secondary prevention in males significantly improves survival.
According to Heart and Stroke Foundation spokesperson Dr. Beth Abramson, there are as many as 40,000 sudden cardiac arrests every year in Canada.
"What's fascinating about this study is that they show that preventive intervention works," says Dr. Abramson. "This treatment is not only prolonging lives; it's giving families peace of mind and hope for the future."
She also notes, "This is exciting information for physicians working with these rare cases but is also important to remember that the most common causes of heart disease relate to lifestyle. It is important that all of us, regardless of family history, take care of our hearts: basic things like smoking cessation, following a healthy diet, and physical activity go a long way in protecting our health."
Statements and conclusions of study authors are solely those of the study authors and do not necessarily reflect Foundation or CCS policy or position. The Heart and Stroke Foundation of Canada and the Canadian Cardiovascular Society make no representation or warranty as to their accuracy or reliability.
The Heart and Stroke Foundation (heartandstroke.ca), a volunteer-based health charity, leads in eliminating heart disease and stroke and reducing their impact through the advancement of research and its application, the promotion of healthy living, and advocacy.
Jane-Diane Frasr | EurekAlert!
Transport of molecular motors into cilia
28.03.2017 | Aarhus University
Asian dust providing key nutrients for California's giant sequoias
28.03.2017 | University of California - Riverside
The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.
To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...
Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.
The results will be published on March 22 in the journal „Astronomy & Astrophysics“.
Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...
Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.
Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...
In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...
20.03.2017 | Event News
14.03.2017 | Event News
07.03.2017 | Event News
28.03.2017 | Life Sciences
28.03.2017 | Information Technology
28.03.2017 | Physics and Astronomy