The not uncommon news of a young seemingly healthy athlete suddenly collapsing and dropping dead on a pitch is always shocking and devastating. The commonest underlying condition discovered on post mortem is a condition called hypertrophic cardiomyopathy. In this video i discuss this condition in detail Introduction
In simplistic terms, this is an inherited condition which is diagnosed by finding an abnormally muscular heart or ventricular hypertrophy without an obvious cause to explain the increased muscularity. It is caused by mutations in the genes that encode components of the contractile apparatus of the heart and therefore the heart muscle itself is abnormal and this is why it looks thicker. One thing to understand is that even though it is inherited the physical changes to the muscle walls may appear only later on in life.
It is an important condition to know about for several reasons:
It is common and can manifest at any age
It may be asymptomatic and yet can lead to dangerous and life-threatening heart rhythm disturbances and even sudden death in a minority of patients which may be preventable/treatable. It is probably the most common cause of sudden death in patients under the age of 30 and the most common cause of death in athletes.
It can cause troublesome symptoms and therefore affect quality of life
Most importantly, it can be passed onto relatives and children and therefore mandates family screening.
The prevalence is probably somewhere between 1 in 500 to 1 in 200 people. Much of the diagnosis is based on visualising the abnormally thickened heart muscle without finding another cause for it. Whereas we previously used Echo, we are now beginning to use MRI scanning which allows better visualisation of the walls of the heart, and this is beginning to pick up even more cases of this condition hence the increased prevalence.
In the vast majority of patients, the increased muscle thickness is more prevalent in one part of the heart esp the septum and this is called asymmetrical hypertrophy which is very suggestive of the diagnosis because with other causes of hypertrophy such as hypertension, you would expect concentric hypertrophy. It is also worth noting that in some patients the thickening of the heart muscle can actually obstruct the blood flow out of the heart. This is called hypertrophic obstructive cardiomyopathy -HOCM.
What are the symptoms:
Many patients have no symptoms whatsoever and the only way they come to attention is because they were having an ECG or an Echo for some other reason or an astute doctor heard a heart murmur.
Those who do complain of symptoms often complain of breathlessness, fatigue, exercise intolerance, chest pains, palpitations, dizziness and blackouts -esp during or immediately after exertion
I hope you found this blog useful. The management of HCM is a very complex subject and will need another blog which i promise to do very soon. Once again i hope you found this useful and would be so grateful if you would consider sharing with anyone you feel may benefit.
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