Heart enlargement is a common cause of sudden death in young people

A seminar in this week’s issue of THE LANCET highlights the frequency, diagnosis and management of hypertrophic cardiomyopathy, an unexplained thickening of the heart in young adults that has a 1% annual risk of sudden death.

Dr. Perry Elliott from University College, London, UK and Professor William McKenna from The Heart Hospital, London state that this genetically transmitted disease affects 1 in 500 adults and is the commonest cause of sudden death in otherwise fit young people and athletes.

The condition results from an abnormal heart muscle protein, and usually becomes detectable by the completion of the pubertal growth spurt. Symptoms are variable, ranging from none to chest pain or breathlessness on exertion. A family history of sudden death in a young adult may be present. Signs of hypertrophic cardiomyopathy can be seen on electrocardiogram, but formal diagnosis requires more specialised imaging. Treatment is aimed at relieving symptoms and preventing abnormal heart rhythms. This can be accomplished by medication, surgery or an implantable defibrillator, which automatically delivers an electric shock when an abnormal heart rhythm develops.

Professor McKenna comments: “The past two decades have seen the identification of disease causing genes and the ability to identify at risk patients and prevent sudden death. With better understanding of the disease process, targeted treatments to treat symptoms and prevent disease development are being sought.”

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