Hypertrophic obstructive cardiomyopathy: new drug helps thickening heart

Imagine a dividing wall between two rooms, which gradually tends to widen and become more and more rigid and impenetrable. Over time, inside the rooms, the space for those who live there is bound to shrink. Something similar, talking about the heart, can tell if the myocardial tissue (the heart muscle) tends to thicken and thus becomes hypertrophic. If the picture affects the septum that separates the two halves of the organ, the right and the left, progressively the blood struggles to get out of the left ventricle that has to push it throughout the body. And the problems associated with hypertrophic obstructive cardiomyopathy, a condition that affects around 11,000 people in Italy, can begin. For those who suffer from it, there is news. The Italian Medicines Agency (AIFA) has approved the reimbursability of a new drug, mavacamten for the treatment of symptomatic hypertrophic obstructive cardiomyopathy (class II-III according to the NYHA classification) in adult patients in whom standard therapy is insufficient. The new oral drug is the first selective and reversible inhibitor of cardiac myosin, the protein responsible for the disease, and the only one currently available.

As mentioned, for sufferers of this disease, the muscular component of the heart, the myocardium, becomes excessively thickened, referred to as hypertrophy. The obstructive hypertrophic form in about 50 per cent of patients is said to have a hereditary predisposition. The disabling symptoms make even the simplest daily activities difficult, with chest pain, palpitations, light-headedness, sudden fainting and persistent fatigue among the most frequent. As Iacopo Olivotto, full professor of Cardiology and director of Paediatric Cardiology, AOU Meyer in Florence, as well as of the Cardiomyopathy Service-AOU Careggi in Florence, explains, "when the thickening involves the septum that divides the two ventricles, an obstacle to the outflow from the left ventricle can be generated. These forms are called 'obstructive' and are very often symptomatic even in young people'. Mavacamten opens up new and interesting treatment perspectives. It acts by reducing excessive myocardial contraction and obstruction to the outflow from the left ventricle. 'As clinical trials have shown, mavacamten can reduce the need for surgical treatment in more than 80 per cent of patients, which in the most severe cases has so far been the only available option,' the expert reports. At the same time, the drug has been shown to significantly improve quality of life by reducing the extent of major symptoms in a manner comparable to surgery, with a good tolerability profile. Mavacamten therefore represents an innovative breakthrough in clinical practice, which needs to be implemented in specialised centres with specific multidisciplinary teams'.

"Cardiomyopathies severely diminish the efficiency and regular functioning of the heart," adds Gianfranco Sinagra, Professor of Cardiology, Director of the Cardiothoracovascular Department - Integrated University Hospital, Trieste and President-elect of the Italian Society of Cardiology (SIC). These pathologies also have important economic implications for the National Health Service. They require high resources for the continuous monitoring of the disease as well as for the management of clinical complications'. More generally, the impact of the disease on patients and families must be considered, as symptoms can severely limit the performance of the simplest daily activities, and have a heavy impact on quality of life. This is recalled by Franco Cecchi, president of AICARM APS - Associazione Italiana Cardiomiopatie - former associate professor of cardiology at the University of Florence. AICARM, with the support of specialists and volunteers, has been providing information and support for years through dedicated services such as 'Cuori in Ascolto' (Hearts in Listening), a telephone line that offers active listening and provides useful indications for understanding one's condition and learning to live with cardiomyopathy. The association also promotes training events, such as courses for patients with hereditary myocardial diseases, webinars on specific topics, cardiopulmonary resuscitation courses for family members, and constant communication through its website and digital and social channels'. The goal of the advocacy is clear: to overcome the gaps related both to often late diagnoses and to the difficulties in accessing the most advanced therapies, pharmacological and cardiac surgery. "Ensuring rapid and uniform access to treatment is essential to concretely improve the quality of life of those living with hypertrophic cardiomyopathy," Cecchi concludes.