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responsible for contraction of the heart, ‘the sarcomere’. More recently, the definition of HCM has been broadened to include a number of other conditions that result in thickened heart muscle.


It is a disease that can affect both men and women of any ethnic background. Excessive muscle thickening tends to develop in puberty or early adulthood or can sometimes develop very late in life. Rarely, it may even begin before birth when the baby’s heart is developing and cause problems in childhood. In a healthy adult heart, the muscle fibres are arranged in an organised fashion and the thickness of the heart’s wall remains normal. In HCM, however, the heart muscle becomes excessively thick and the fibres are arranged haphazardly, making the heart vulnerable to life-threatening heart rhythms (ventricular fibrillation/ventricular tachycardia). The thickening may also reduce the efficiency of the heart’s pumping action or even lead to the blockage or ‘obstruction’ of blood leaving the main pumping chamber of the heart. This can result in the symptoms described below. Diagnosing HCM may pose a significant challenge, since the heart muscle may also thicken in individuals who have high blood pressure or who participate in prolonged athletic training.


What are the symptoms? If you have HCM you may never experience any symptoms. If you do suffer symptoms they can vary from person to person and may begin in infancy, childhood, middle or elderly life. No particular symptom or complaint is unique to HCM sufferers.


The most common symptoms are:


• shortness of breath, usually brought on by physical exertion • chest pains, usually brought on by physical exertion • palpitations, a rapid and/or irregular heart beat • light-headedness, blackouts


If you suffer from any of these symptoms it does not mean that you necessarily have HCM, but if you visit your GP he/she may suggest that you undertake some tests or may refer you to a cardiologist (a heart specialist).


How is it diagnosed? Diagnosis involves you having an ECG and an ultrasound scan of the heart, known as an echocardiogram or ECHO (We describe these tests on pages 26-27). Most people with HCM have an abnormal ECG and often the ECG may become abnormal long before thickening of the heart can be seen on an ECHO. If we suspect HCM in you, an exercise ECG and a Holter monitor will be required. In some cases, further imaging of the heart may be necessary using a magnetic resonance imaging (MRI) scan. (We describe these tests on pages 27-30).


Cardiac Risk in the Young


14


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