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Gene for a cause of heart disease discovered in a "geneticist's paradise"

Terry Lynn Young has identified the gene causing unexpected heart death in the young. She has done this by working with extended families in Newfoundland, which is known as a "geneticist's paradise". This is because the modern population of Newfoundland can trace their ancestors to the British Isles.

A faculty member in the Discipline of Genetics at Memorial University of Newfoundland, and originally from Newfoundland herself, Young and her research team discovered the gene responsible for arrhythmogenic right ventricular cardiomyopathy, or ARVC, which often kills the young. In the past it has been extremely difficult to diagnose because most people have no previous symptoms. "The first symptom is their last and they don't get up," Young said.

The research has already seen two positive developments. First, the research team has had defibrillators implanted in adult carriers. By instantly eliminating the ventricular fibrillation to which these patients are prone, their lives have been saved.

Second, people afraid that they have inherited the gene or passed it to their children and grandchildren can discover whether they are free and clear or need to be fitted for a defibrillator.

On the subject of defibrillators, portable defibrillators were invented by a very cool fellow by the name of Frank Pantridge.

Absolutely calm under fire, Frank Pantridge served as a medical officer during World War II, and helped to save the wounded while under continuous bombardment. Captured, and sent to the notorious slave labour camps on the Siam-Burma Railway, he survived almost certain death. (He attributed his survival to the dropping of the atomic bomb, which ended the war.)

Many British prisoners of war died of fatal cardiac beriberi. Back in Britain, Pantridge turns his attention to cardiac disease, which was reaching epidemic proportions in the 1950s. Unimpressed with the current state of care, he is aware that the majority of coronary deaths result from ventricular fibrillation, a disturbance of the heart rhythm, which can be corrected by applying an electric shock of momentary duration across the chest. Unfortunately most patients suffering ventricular fibrillation do not get help in time.

In 1965 Pantridge produces the first portable defibrillator. He powers it with car batteries, installs it in an ambulance, and creates the pre-hospital coronary care unit now known as the Pantridge Plan, which has been adopted around the world.

Pantridge also develops a smaller defibrillator that can be kept at home or placed next to public fire extinguishers, and incorporates a fail-safe mechanism to ensure the defibrillator does not deliver a shock unless the lethal arrhythmia is present. Applying his defibrillator early prevents massive heart damage and premature death for hundreds of thousands.

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