edited by Dr. Niccolo Maurizi
Dilated cardiomyopathy is a condition characterized by a dilated heart, that is, enlarged and weakened in its pumping function. Professor Sinagra explained that it is a pathology that can have various causes, but which has as a common element the dilation of the heart chambers, in particular the left ventricle, and a reduction in the ejection fraction (the percentage of blood that the heart can pump with each beat).
Dilated cardiomyopathy is not a single disease but rather a “container” that encompasses several conditions with similar manifestations but different causes. Recognizing this heterogeneity is essential for a personalized diagnostic and therapeutic approach.
Causes and Diagnosis
One aspect that was widely discussed during the webinar was the role of genetics. Performing a genetic analysis helps to better characterize the type of cardiomyopathy that is being treated: for example, identifying forms associated with skeletal muscle involvement or those linked to specific chromosomes (such as X-linked dystrophin, which mainly affects males). Genetics also helps us assess the risk of complications that may occur. For example, some genetic mutations are associated with a higher risk of arrhythmia even when the heart is not particularly dilated or dysfunctional. Among these, the professor mentioned the genes for Lamina, Desmin, Desmoplakin, Filamina and RBM20. Once the genetic defect has been identified, it is then essential to extend the screening to the family. Identifying a genetic mutation in the patient allows us to search for it in family members, reassuring those who do not have it and carefully monitoring those who do, even in the absence of symptoms.
Finally, Prof. Sinagra reminded us how important it is that the characterization of the type of pathology, which we define as 'phenotype', is accurate before proceeding to genetics, to avoid imprecise diagnoses.
Identifying the cause, therefore, is the key to treating patients with an enlarged and dysfunctional heart.
The diagnosis of primary dilated cardiomyopathy requires careful exclusion of other causes of cardiac dilation and dysfunction, such as: heart artery disease, uncontrolled arterial hypertension, toxic causes (such as alcohol abuse or antitumor therapies), or states of overload (such as pregnancy in some subjects). In modern diagnostics, in addition to basic tests such as the electrocardiogram and echocardiogram, cardiac magnetic resonance imaging is becoming increasingly important, which allows the study of the myocardial tissue, identifying the presence of scars ("fibrosis") and characteristic pictures of the latter, such as the "ring of fibrosis within the heart wall” which may be associated with an increased risk of dangerous ventricular arrhythmias.
So how do we treat patients with dilated cardiomyopathy? Prof. Sinagra illustrated how the treatment of CMD has improved significantly in recent decades. He described four fundamental “pillars” in drug therapy:
- Renin-angiotensin system antagonists (ACE inhibitors or sartans)
- Beta-blockers
- Aldosterone antagonists
- Sodium-glucose cotransporter inhibitors (SGLT2 inhibitors)
These molecules have truly revolutionized the care of our patients, making it possible to improve survival and quality of life. The importance of appropriate use of diuretics has been emphasized, limiting them to patients with signs of water accumulation, in the lungs or limbs, to avoid side effects such as low blood pressure or too low potassium levels in the blood. In addition to drugs, there is a vast but important armamentarium, which consists of devices, such as Cardiac Resynchronization Therapy (CRT), particularly useful in certain subgroups of patients, which can significantly improve ventricular function and in some cases reverse LV dilation.
See the articles
See the articles
Treatment of atrial fibrillation is very important, whether done through the use of drugs or through ablation. Correcting valve problems, which often become concomitant, such as the use of the mitral clip for selected patients with significant functional mitral regurgitation, plays a key role. Let's not forget the use of the defibrillator (ICD) in patients at greater risk, to treat arrhythmias that can lead to cardiac arrest. If all this is not enough, there are also 'advanced' ways nowadays such as external devices to support the heart (the artificial heart or LVAD, to be clear) and ultimately heart transplantation. All this has resulted in a significant increase in survival over the last 50 years. The professor reminded us that 20 years ago, 5-year mortality was around 50%, while today, thanks to therapeutic progress, 10-year mortality is less than 20%. This means that over 80% of patients with CMD survive beyond 10 years from diagnosis, often with a good quality of life.
As you may have understood, for pathologies of such complexity, it is important to rely on experts, who have an entire team that can follow the patient in all aspects. From here emerged the importance of the Expert or reference Center, which must be distinguished by a high volume of patients followed, have a multidisciplinary approach, collaborate with various national and international centers, have a proven commitment to scientific research and that critically take into account what is done, through registers of its activity for each individual pathology treated.
Finally, we tried to imagine the role that patient associations such as AICARM can have in the path of patients with Dilated Cardiomyopathy. The Professor emphasized how important it is to give voice to patients and their experiences, to increase awareness of the concrete problems of cardiomyopathies, to create networks of patients who can share experiences and paths, as well as promote information and scientific dissemination. We at AICARM have taken note and will certainly continue to work in this direction.
The webinar concluded with a well-attended Q&A session, a sign of the great interest in the topic. Prof. Sinagra answered questions on various topics, from genetic predisposition to physical activity management, from the use of new therapies to risk stratification. The final message was one of hope: CMD remains a serious disease, but thanks to diagnostic and therapeutic advances, most patients can expect long-term survival and a good quality of life. We look forward to seeing many of you at the next meeting at the end of March, where we will try to understand with you the benefits that a healthy and balanced diet can bring to all of us, with or without cardiomyopathy.
See you soon!
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