Hypertrophic cardiomyopathy: new treatments when it is discovered that the heart is thickening
It is not a rare condition, but far too little is still known about it: it is vital to raise awareness in order to achieve early diagnosis
The heart muscle loses its thinness and tends to become less elastic. As a result, the heart does not contract properly. This is the defining feature of obstructive hypertrophic cardiomyopathy which, in the most ‘obstructive’ cases, can even block the flow of blood from the heart to the body. Meanwhile, life gradually changes. It can be difficult to maintain one’s usual routines and carry out everyday tasks. Walking, climbing stairs, taking part in physical activity or carrying out one’s job regularly are all affected, significantly impacting the quality of life of those affected. Statistics show that 78 per cent of patients report limitations in physical activity and severe emotional repercussions, including anxiety and depression, whilst 63 per cent experience consequences for their work. If you’re looking for the scientific definition of this condition, it is known as obstructive hypertrophic cardiomyopathy. And it is certainly not a rare condition leading to heart failure, given that we are dealing with a debilitating and progressive heart condition that is still poorly understood and often not diagnosed in time. Statistics suggest it may affect around 11,000 people in Italy alone, but the actual number of cases could be higher. The problem is that it is difficult to recognise the condition and, unfortunately, the signs and symptoms are often attributed to other illnesses, leading to delays in diagnosis and treatment – although, fortunately, progress is being made in this area.
Here’s what happens
“Hypertrophic cardiomyopathy is a disease of the heart muscle characterised by a thickening of the heart’s walls which, in its obstructive form, can impede the normal outflow of blood from the left ventricle – explains Lia Crotti, Director of the School of Specialisation in Sports Medicine at the University of Milan-Bicocca and Director of the Cardiomyopathy Centre and the Cardiac Rehabilitation Unit at the IRCCS Istituto Auxologico Italiano in Milan –. Although it is not a rare condition, understanding of it remains limited, both amongst the general public and, at times, within healthcare pathways. For this reason, it is essential to raise awareness of the symptoms and encourage timely diagnosis. Today, patients can rely on a network of over 100 specialist centres across the country, which ensure the diagnosis, management and treatment of the condition.” It should be noted that genetic and family predisposition certainly play a role in determining risk. “When a case of hypertrophic cardiomyopathy is diagnosed, it is important to consider screening family members, even in the absence of symptoms. Early identification of those at risk allows for appropriate monitoring to be initiated and for timely intervention when necessary,” the expert explains.
Treatment is improving
Among recent developments in treatment, the first cardiac myosin inhibitor approved for the treatment of symptomatic obstructive hypertrophic cardiomyopathy has recently become available. “Mavacamten (the scientific name of the active ingredient) has introduced an innovative approach because it acts directly on the pathophysiological mechanism underlying obstructive hypertrophic cardiomyopathy – notes Iacopo Olivotto, Full Professor of Cardiology at the University of Florence and Director of Paediatric Cardiology at the Meyer IRCCS University Hospital –. The data available up to five years are particularly important because they confirm the sustained clinical efficacy and safety profile over the long term, a crucial aspect for a chronic condition. In particular, the results of the EXPLORER-LTE extension study showed a significant reduction in left ventricular outflow tract obstruction, which translates into an improvement in the patient’s quality of life and ability to carry out daily activities. This has also led to a reduction in the typical symptoms of the condition, such as shortness of breath, palpitations, fatigue, tiredness, dizziness and chest pain. As many as 59 per cent of patients were asymptomatic after treatment lasting up to 252 weeks with the drug, which has also been shown to be safe and well tolerated.” The key, however, is to ensure comprehensive care for patients. And this is the major challenge. We must therefore continue “to raise awareness of the disease, facilitate access to specialist centres and highlight the importance of early diagnosis and family screening”.
