This week dutch scientists lead by cardiologist Arthur de Wilde at the Amsterdam Medical Centre have uncovered the gene responsible for sudden heart failure. According to an article by the Sydney Morning Herald (Sudden heart failure gene discovered) a tiny DNA fragment on chromosome 7q36 in humans has been found to be the ‘marker’ for the previously unexplained fatal heart disorder known as idiopathic ventricular fibrillation.
Ventricular fibrillication is caused by the lack of ventricle muscle contraction during ventricular systole of a heart beat. Idiopathic VF, on the other hand, refers to extremely fast, rapid contractions of the ventricular muscle, and accounts for about 1% of cardiac arrests (Davidson’s principles and practice of Medicine) that until now had an unknown cause. IVF would result in blockage of pumping of blood through the aorta (main artery) to other parts of the body which quickly depletes oxygen levels in cells. Aerobic respiration would stop and so would production of ATP, the energy currency of living things. As Davidson points out;
Within seconds of the onset… the patient loses consciousness. Respiration ceases and death is… inevitable unless treatment (direct current shock from a defibrillator) is started promptly.
The Sydney Morning Herald articla claims that a person with IVF could potentially have a life expectancy of less than 50 years and that there is a 50% chance of passing the gene onto offspring. What this discovery could mean, the article states, is that genetic screening could detect the IVF gene and enable people with it to ‘get a tiny electronic defibrillator implanted in their bodies.’ This device would automatically shock the heart during a cardiac arrest.
The study involved 300 patients and included tracing their ancestral hereditary information back into the 18th century. It holds huge potential to be a medical milestone in countering sudden heart arrest.
References
1. Sudden heart failure gene discovered, The Sydney Morning Herald, viewed 19 March 2009, <http://news.smh.com.au/breaking-news-world/sudden-heart-failure-gene-discovered-20090313-8wtg.html>
2. Edwards C.R.W., Bouchier I.A.D. 1993, Davidson's Principles & Practice of Medicine (Ed. 16), London, UK: Longman Group UK Limited.
3. Image (right): Copyright www.dnatestinginformation.com
4. Image (left): Copyright www.motorcityblog.blogspot.com
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