Studying thickening at the tip of the heart in athletes and non-athletes

The extended spectrum of apical hypertrophic cardiomyopathy (Dr Rebecca Hughes)

Hypertrophic cardiomyopathy (HCM) is a form of heart muscle disease that can be caused by faults in certain genes. It causes the heart muscle wall to thicken abnormally and people with these changes are at risk of dying suddenly from dangerous heart rhythms. When thickening mostly affects the tip the heart, it is called Apical HCM (ApHCM), and this carries an even greater risk of death. ‘Mild’ ApHCM is sometimes seen in athletes, but the consequences of it are not well understood, so it’s not clear how best to advise those who have it. Dr Moon’s team at UCL work with athletes and, when they spot minor thickness at the tip of their heart, they call it ‘relative' ApHCM. But they suspect that relative ApHCM may be more of a cause for concern than previously thought, because other subtle heart abnormalities are also often present. In this study they will scan the hearts of normal people and athletes who have relative ApHCM and full ApHCM, using MRI and ultrasound. They’ll also study molecules present in their blood and urine, and look at their DNA. They aim to uncover new markers that could flag up these conditions, and ways to categorise people as high and low risk of having further consequences for their heart health. This could help to make sure that precautionary advice and treatments get to those who need it.