Cardiomyopathies, diagnosed as an ‘earthquake’ that shakes life for 350 thousand patients

Cardiomyopathies, diagnosed as an ‘earthquake’ that shakes life for 350 thousand patients


They affect the heart muscle, making it difficult for the heart to pump blood to the rest of the body. They can be caused by genetics, diseases, infections and other environmental or lifestyle factors. They are cardiomyopathies, a group of diseases that can lead to symptoms such as fatigue, shortness of breath and leg swelling. Anyone who receives the diagnosis of one of these diseases experiences a real ‘earthquake’ because their life is completely turned upside down. In Italy, over 350 thousand people are affected and must be followed by ensuring family screening and integrated management between specialists. Precisely to photograph and at the same time provide solutions to these needs, the Italian Report on Cardiomyopathies presented today to the Senate. This is a “road map” drawn up by a working group made up of clinicians and patient representatives with the aim of raising public awareness of these diseases and ensuring that they receive the right attention from decision-makers in the healthcare system. The initiative is part of the project Cardiomyopathies matterpromoted by Bristol Myers Squibb at European level and now also in Italy.

What are cardiomyopathies and what complications do they entail?

Cardiomyopathies involve the heart muscle and are still largely underdiagnosed. “They are divided into dilated, hypertrophic, arrhythmogenic and restrictive, and they all cause a strong reduction in the efficiency of the heart which is no longer able to pump blood”, says Iacopo Olivotto, head of the Intercompany Innovation and Research Center for the Diagnosis and Treatment of Cardiomyopathies at the Careggi and Meyer University Hospital of Florence. “They can be characterized by abnormal growth, a thickening of the heart muscle, or a loss of elasticity of the latter. Complications are very severe and include heart failure or the development of significant arrhythmias, such as atrial fibrillation and ventricular arrhythmias which in some cases can be fatal. They can occur at any age, but often involve the younger population and in the most severe forms also children.”

Integrated management between specialists and more information

Early diagnosis and family screening, integrated patient management between specialists, simplification and streamlining of care pathways, promotion of information to be provided to patients, updating of healthcare professionals and definition of a National Cardiomyopathy Network. These are the objectives to be achieved to improve the treatment and assistance path for patients affected by the various forms of cardiomyopathy. “The document we present today aims to be a national action plan to meet the ever-increasing needs of patients and also doctors” – he continues Franco Cecchi, president of Aicarm Aps – Italian Cardiomyopathies Association. “The diagnosis of cardiomyopathy is an ‘earthquake’ that often shocks those affected and their families. This occurs in particular if the disease is discovered in adolescence or youth. We consider integrated management between specialists and greater promotion of the information to be provided to patients as well as the updating of healthcare professionals to be of absolute priority”.

The technological sprint

Help in meeting the needs of clinicians and patients can come from new technologies: “The use of wearable devices for accurate home monitoring of cardiac values ​​can be helpful. Through telemedicine it is also possible to obtain a faster and more immediate reading of the ECG results by the medical staff”, continues Cecchi. But there are also challenges facing our national healthcare system on the horizon. “For example – he underlines Matteo Pinciroli, president of the Cardiomyopathy Patient Council, Global Heart Hub – the provision of advanced imaging and genetic testing services is now essential in the care pathway and should be guaranteed in all reference centers. However, cardiac MRI still remains underused today and only 40% of patients undergo it regularly. A gap that will need to be filled in the coming years, also because these tests are increasingly recommended by international guidelines.”

The economic and social costs of cardiomyopathies

The urgency of systematically addressing the cardiomyopathy ‘chapter’ is also linked to their impact on the health system’s coffers as well as on the patients’ quality of life. Suffice it to say that they can lead to heart failure, the third cause of hospitalization in our country. They therefore contribute to an estimated expenditure of over 650 million euros per year for the entire national health service. “In addition to being potentially fatal, they have a great impact in terms of patients’ quality of life – he adds Gianfranco Sinagra, director of the Cardiothoracovascular Dai of the Giuliano Isontina University Health Company (Asu Gi) and elected president of the Italian Society of Cardiology. Hypertrophic cardiomyopathy is the most frequent form and in Italy alone there are estimated to be over 100 thousand cases, probably only a third of which are currently diagnosed”.

Why family screening is important

Since these are hereditary pathologies, family members need adequate evaluation over time. This is also why they present peculiar characteristics compared to other cardiovascular diseases and require a targeted treatment path. “The diagnosis – continues Sinagra – is still often late, even if it can be suspected, in some cases, through simple tests such as the electrocardiogram and an accurate individual and family history, normally performed during sports medical visits, with an echocardiogram or as part of family screening of confirmed subjects. On the treatment front, important innovations have been recorded in recent years, especially for hypertrophic obstructive cardiomyopathy, of which over 11 thousand cases have been diagnosed in Italy”.

The project Cardiomyopathies Matter

From this very complex picture and from the numbers that weigh on the whole of society, comes the awareness of having to do something concrete. “We cannot ignore the fact that cardiovascular diseases currently represent the main cause of death in our country and among these cardiomyopathies can lead to the development of arrhythmias, heart failure and sudden deaths, especially among young people,” he continues Elena Murelli, Senator and president of the parliamentary intergroup on cardio-cerebrovascular diseases. “At a national level, we are already working to increase attention to these pathologies. The project Cardiomyopathies Matter represents a key tool for informing public opinion and at the same time inspiring the work of the parliamentary intergroup which I am pleased to chair”. A project promoted by Bristol Myers Squibb at a European level and now also in Italy: “We are proud to be able to collaborate with some of the best Italian clinical experts as well as representatives of institutions and patients to inform about a group of heart diseases that deserve greater attention ”, he concludes Queen Vasiliou, General Manager of Bristol Myers Squibb Italy. “It is important to all work together for early diagnosis and streamlining patient care pathways. The presentation of this report today is intended to be a first step towards a general improvement of the entire path of treatment and coexistence with the pathology”.


Source link