Hypertrophic cardiomyopathy, a drug approved in Europe that can avoid surgery
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Shortness of breath, loss of consciousness, dizziness and fatigue, up to heart failure, arrhythmias, strokes, among the top three causes of sudden juvenile death among athletes. These are the complications of hypertrophic obstructive cardiomyopathy, a rare heart disease, in 50-60% of cases hereditary, debilitating and progressive, which according to estimates affects over 100,000 people in Italy. The positive news, for patients with symptoms, is that a new therapy has just been approved by the European Commission, mavacamten, the first and only selective allosteric and reversible inhibitor of cardiac myosin that acts on the pathophysiological mechanisms underlying the disease.
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What is hypertrophic obstructive cardiomyopathy
“Hypertrophic obstructive cardiomyopathy causes an increase in the thickness of the walls of the left ventricle of the heart and is characterized by obstruction, i.e. the obstacle to the outflow of blood from the left ventricle, by an abnormality of relaxation, i.e. diastolic dysfunction and heart failure which can derive from it, and from an altered function of the mitral valve – explains Gianfranco Sinagra, Professor of Cardiology and Director of the Cardiothoracovascular Department of the Integrated University Health Authority of Trieste -. Added to this are alterations in the electrical activity of the heart due to fibrotic scars of the myocardium, altered oxygenation (ischemia) and arrhythmias of various types, such as atrial fibrillation. In the most serious forms, there is a risk of cardiac arrest”.
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How is it diagnosed
Only about 15,000 people have received a correct diagnosis out of an estimated 100,000. Life-threatening ventricular arrhythmias can occur in young people and athletes, without being preceded by warning symptoms. In fact, the disease can be completely asymptomatic or present transient symptoms such as dyspnoea, fatigue and loss of consciousness. The electrocardiogram, the echocardiogram and, in selected cases, the cardiac magnetic resonance allow it to be identified and distinguished from other conditions, such as the so-called ‘athlete’s heart’. “Although rare, it is the most frequent familial genetic heart disease – continues Sinagra -. This makes it possible to shift attention from the patient to family members, allowing for early diagnosis and preventive approaches”. The identification of the pathology and the detection of genetic mutations in a patient allows in fact to activate screening programs also in family members. Which can be apparently healthy individuals, the so-called ‘genotype positive’, i.e. carriers of the mutation but not affected by evident variations of the electrocardiogram and echocardiogram. These people need to be scrutinized more closely.
How and where to cure
“Surgery – explains the expert – is recommended only for severe obstructive forms, not controlled by drug therapy, and requires hospitalization in centers of excellence, because it is a relatively infrequent operation that requires specific experience and expertise. Most cases require drug therapy, which to date has consisted of beta-blockers, calcium channel blockers, and disopyramide. The approval of therapies such as mavacantem is undoubtedly an important step forward which will make it possible to give concrete answers to people’s needs”.
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Our country has a ten-year culture in the treatment of genetic heart disease and the reference centers for this pathology are spread throughout the territory, underlines Iacopo Olivotto, Full Professor of Cardiology at the University of Florence and Director of Pediatric Cardiology at the Meyer IRCCS University Hospital : “However, in the most serious cases, hypertrophic obstructive cardiomyopathy requires expertise in specific surgical or interventional therapies which can only be guaranteed by multidisciplinary teams, the ‘HCM Heart Teams’, present in a few highly specialized centres. Precisely in these patients, the positive results of the two Phase 3 clinical studies – EXPLORER-HCM and VALOR-HCM – show the efficacy of the new drug mavacamten in improving quality of life, hemodynamic compensation, exercise capacity and control of symptoms, resulting in fact a potential alternative to surgery”.
The studies on mavacamten
Indeed, it is on these two studies that the European Commission’s approval of mavacamten is based: “EXPLORER-HCM is a milestone, because it is the first trial that has led to the approval of a drug expressly developed for the treatment of hypertrophic cardiomyopathy, a disease so far orphaned on a pharmacological level – continues Olivotto, Principal Investigator of the study – In this study, which involved 251 patients with symptomatic hypertrophic obstructive cardiomyopathy, 65% showed improvement in at least one functional class, i.e. the parameters used to quantify symptoms, physical condition, social function and quality of life. Furthermore, the VALOR-HCM study showed that the addition of mavacamten significantly reduces the need for invasive procedures: at the end of the study, 82% of the patients treated – initially destined for surgery – no longer had this indication. Alongside these important efficacy data, mavacamten has shown an excellent safety and tolerability profile. We hope that, after the European approval, patients in our country will also be able to have this innovative therapy available as soon as possible”.
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“This approval is an important milestone for patients in Europe who will now have the treatment option mavacamten, a first-in-class cardiac myosin inhibitor that targets the pathophysiology underlying symptomatic hypertrophic obstructive cardiomyopathy,” concludes Samit Hirawat , MD, chief medical officer of Bristol Myers Squibb. “We are proud to bring this innovative treatment to more patients around the world and continue our global commitment to transforming patients’ lives through science.”
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