It is estimated that over 100 thousand people are affected by hypertrophic obstructive cardiomyopathy in Italy, but of these, only about 15 thousand have received a correct diagnosis. In the remaining cases, the symptoms are confused with those of other heart diseases or are underestimated. The pathology, which causes the thickening of the heart muscle, in fact presents signs common to many other clinical conditions. Today there is a molecule, mavacamten, already available in the United States and under registration in Europe, which has shown important potential to offer rapid and long-lasting improvement of some key heart abnormalities in patients living with this chronic, sometimes progressive disease . Today a virtual media tutorial, promoted by Bristol Myers Squibb, is dedicated to the pathology and new perspectives in treatment.
“Hypertrophic obstructive cardiomyopathy is a very widespread genetic disease – says Iacopo Olivotto, full professor of Cardiology at the University of Florence and director of Pediatric Cardiology at Aou Meyer -: heart proteins are altered with an anomalous increase in their contractile activity. The pathology causes an important thickening of the walls of the heart muscle and a disproportionate increase in energy consumption, which in the long term can also have very serious consequences”.
The most common symptoms: palpitations, tiredness, shortness of breath and difficulty in exercising, especially after meals. “More rarely – Olivotto again – syncope, angina and dyspnoea occur. In the so-called obstructive forms, there may also be an obstacle to the outflow of blood from the left ventricle, which, in some cases, requires surgical correction. However, there are also mild and completely asymptomatic cases. This makes the diagnosis even more complex, especially in young people. The disease is typically diagnosed around age 40, but is often present as early as adolescence. Sports medicine is able to recognize it in asymptomatic stages thanks to the tests required for athletes, especially the ECG, and is able to significantly reduce the cases of sudden deaths during sporting competitions. This disease compromises the quality of life, because it can make even the simplest activities difficult. Very often this is the first sign that prompts patients to check with their doctor”.
The most frequent familial genetic heart disease is mostly transmitted in an autosomal dominant fashion. “The genetic test is indicated for each patient – underlines the cardiologist – even if not everyone chooses to carry it out. It is positive in about half of the cases and is useful for studying the other members of the family. In the remaining 50% of patients, the test is negative, which means that the disease could have developed on a polygenic basis.In the absence of a single responsible gene, only clinical screenings can be performed on family members, therefore with ECG, in adults about every 5 years, in adolescents more often, because by age they are at risk of developing the disease even if they are still asymptomatic. The test on family members allows you to identify who needs to be followed up over time. These are extremely sensitive tests, which today can be performed quickly, but are complex to interpret: for this reason it is very important to make use of a geneticist with specific experience in heart disease”.
In Italy there are several treatment centers with specific experience for this pathology and for other genetic heart diseases. “Since the 1990s, the culture relating to hypertrophic obstructive cardiomyopathy has spread very much, we are one of the countries able to treat it best – continues Olivotto -. However, it is essential that patients turn to dedicated centres, which have much more experience in recognizing symptoms, providing correct information and identifying the best treatment. Surgery is recommended only for severe obstructive forms and requires hospitalization in centers of excellence, because it is a rare operation. For many of these patients, implantation of a life-saving defibrillator is required. Most cases instead require drug therapy, which until now has consisted of beta-blockers, calcium channel blockers and antiarrhythmics, developed for other pathologies”.
“The first therapy specifically developed for hypertrophic cardiomyopathy, mavacamten is a first-in-class oral allosteric modulator of cardiac myosin, whose clinical data validate its promising potential as an important treatment option for symptomatic patients with the obstructive form.” ”.
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