Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Research supports broader screening for sudden cardiac death

02.11.2011
Around one in 500 Swedes carry a genetic mutation which can cause sudden cardiac death. The diagnosis can lead to major lifestyle changes, but quality of life can be maintained with the right advice and support, reveals a new study from the Sahlgrenska Academy at the University of Gothenburg, Sweden.

The most common cause of sudden cardiac death in children and adolescents is the heart muscle disease hypertrophic cardiomyopathy. The condition is hereditary, and if one family member is affected the Swedish National Board of Health and Welfare recommends that the whole family is screened. This can lead to major upheavals in family members’ lives: people who see themselves as healthy can suddenly get a diagnosis that necessitates big lifestyle changes and sometimes even lifelong medical treatment.

Physical effects of screening
In her thesis, Ewa-Lena Bratt, a paediatric nurse at the Queen Silvia Children’s Hospital and doctoral student at the University of Gothenburg’s Sahlgrenska Academy, looks at the physical effects of family screening and weighs them against the psychosocial effects and impact on quality of life. The study of parents and their children aged 7 to 25 at the Queen Silvia Children’s Hospital reveals that the diagnosis itself rarely has a negative effect on quality of life.
Children and parents grateful
“Despite learning that they have a chronic and potentially life-threatening heart disease, both children and parents were grateful that the disease had been picked up before any serious complications arose, and that they could now call on medical treatment and advice,” says Bratt.

“The lifestyle changes, on the other hand, have a greater negative impact, not least for older children and adolescents who are already doing sport and now have to avoid unsuitable sporting activities.”

Greater risk for adolescents
The risk of serious psychosocial effects is greater among adolescents, many of whom are at a sensitive stage and have built up a social network through their sport. It can therefore help to be diagnosed earlier in life.

“Younger children can be guided by their parents towards other leisure activities which they can pursue during their youth without running any risks,” says Bratt.

Not informed of the risk
One problem is that many adults diagnosed with hypertrophic cardiomyopathy are not informed of the risk of the disease being inherited, with the result that their children are not referred for screening. There is room for improvement here, Bratt believes.

“Our most important conclusion is that newly diagnosed children and adolescents given the right support and information can maintain their quality of life and look confidently to the future,” she says. “I hope that my thesis will spur further improvements in the way these patients are looked after.”

Good physical performance
Many people with hypertrophic cardiomyopathy are treated with beta-blockers, but their use in those who are not symptomatic is controversial, as it has been speculated that this type of treatment affects physical performance to such a degree that it can be disabling. Bratt’s thesis shows, however, that physical performance is as good in those treated with beta-blockers as in those who only make lifestyle changes.
“My thesis lends support to broader screening for hypertrophic cardiomyopathy,” says Bratt.

The thesis “Screening for Hypertrophic Cardiomyopathy in Asymptomatic Children and Adolescents. Psychosocial consequences and impact on quality of life and physical activity” was successfully defended on 28 October.

HYPERTROPHIC CARDIOMYOPATHY AND SUDDEN CARDIAC DEATH
Around one in 500 Swedes carry the genetic mutation behind hypertrophic cardiomyopathy, a cause of sudden cardiac death, and a child who has a parent with the disease has a 50% risk of inheriting it. People with the disease can be completely asymptomatic, in which case the disease is often picked up through screening when another family member is diagnosed, either while still alive or in a post-mortem after dying suddenly and unexpectedly.
For more information, please contact: Ewa-Lena Bratt
Tel: +46 (0)31 343 5139
Mobile: +46 (0)708 178286
E-mail: ewa-lena.bratt@vgregion.se
Weitere Informationen:
http://gupea.ub.gu.se/handle/2077/27855
Bibliographic data
Authors: Bratt E-L, Östman-Smith I, Sparud-Lundin C, Axelsson Å B.
Title: Parents’ experiences of having an asymptomatic child diagnosed with hypertrophic cardiomyopathy through family screening.
Journal: Cardiol Young 2011 Feb; 21(1):8-14.
Link to paper:
http://journals.cambridge.org/action/displayAbstract?fromPage=online&aid=7953708

Helena Aaberg | idw
Further information:
http://www.gu.se

More articles from Health and Medicine:

nachricht Investigators may unlock mystery of how staph cells dodge the body's immune system
22.09.2017 | Cedars-Sinai Medical Center

nachricht Monitoring the heart's mitochondria to predict cardiac arrest?
21.09.2017 | Boston Children's Hospital

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: The pyrenoid is a carbon-fixing liquid droplet

Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.

A warming planet

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Rainbow colors reveal cell history: Uncovering β-cell heterogeneity

22.09.2017 | Life Sciences

Penn first in world to treat patient with new radiation technology

22.09.2017 | Medical Engineering

Calculating quietness

22.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>