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Genetic Screening and Individualized Therapy for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

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Topics such as gene therapy, genetic codes, and the potential for customized treatments and therapies based on your individual genetic makeup have certainly garnered quite a bit of attention from the medical profession and media alike the past few years. Now, persons with a rare genetic form of cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy or ARVC, are being offered hope in the form of a customized treatment designed to improve survivability in the event of sudden cardiac arrest.

ARVC, one of three types of cardiomyopathy, is a genetic or inherited disorder. The condition, first identified in the 1970s, damages the heart muscle, leaving scar tissue and fat in the place of healthy heart muscle. The name is somewhat misleading because the disease affects both the right and left ventricles. Persons with ARVC have irregular heart rhythms and eventually the heart's ability to pump is weakened or impaired. Unlike other forms of heart disease, persons with ARVC often have no symptoms whatsoever until they die of sudden cardiac arrest. ARVC is frequently the culprit behind the death of young adults, particularly athletes, who die of sudden cardiac death. Because there are few warning signs or symptoms, the condition can be extremely difficult to diagnose. The condition is particularly prevalent in Newfoundland which has an extremely high ratio of persons with ARVC.

Because of the high concentration of persons with ARVC in Newfoundland, the disease has been a focus of researchers who now believe that they have identified a gene which is responsible for the development of ARVC. Researchers have identified a gene mutation, electrocardiogram (ECG) mutation A - ARVD5, present in families with documented incidents of ARVC. It’s believed that this gene mutation is responsible for the eventual development of ARVC.

ARVC can have devastating results. With respect to sudden cardiac death, ARVC comes in at number two as the cause of death in young adults. It also causes sudden cardiac death in other demographics as well. Men are particularly impacted with 50 percent death rate by 40 years and an 80 percent death rate by the age of 50.

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EmpowHER Guest

ICDs are 100% effective to save a patient from arrhythmia
A defibrillator is any device which will get a person out of ventricular fibrillation,where paddles are use to shock a patients heart back to normal. These external defibrillators have saved 1000s of lives. An ICD will automatically reset the heart when the heart enters a potentially life-threatehese devning arrhythmia. An ICD can deliver a shock to the heart through electrodes placed near the heart at the time of implant. Often times the ICD will get the patient out of the abnormal rhythm by pacing the heart rapidly. Although a shock can be felt by the patient, pacing to terminate an abnormal rhythm occurs usually without the patient being aware.


April 16, 2011 - 2:24am
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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.


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