Interview with Prof. Lia Crotti director of the Cardiomyopathies Center of the IRCCS, Italian Auxological Institute of Milan 

di Laura d'Ettole 

Their main goal is to prevent the risk of sudden death. Their focus, the family unit and any genetic mutations responsible for cardiomyopathies. 

Lia Crotti is Associate Professor of Cardiovascular Diseases at the Milano Bicocca University and directs the Cardiomyopathies Center of the IRCCS, Italian Auxological Institute of Milan, one of the reference points in this field in our country. They attract patients above all from their region, but there are not a few cases in which Italians, even those residing abroad, come here for treatment. 

When was the Milan Cardiomyopathy Center born and what are its objectives? 

Prof. to Lia Crotti

Prof. to Lia Crotti

The Center was founded in 2014, thanks to the support of Prof. Cecchi, an internationally renowned expert in the field of cardiomyopathies. In those years I was carrying out a research period in Munich with the aim of acquiring the most advanced techniques in the field of molecular biology and meanwhile Prof. Cecchi had begun to train some of our most promising cardiologists. Having returned to Italy for good in the summer of 2015, I started working synergistically with Prof. Cecchi to strengthen the Cardiomyopathies Center of the S. Luca Hospital. 

The Center welcomes patients with different types of cardiomyopathy, including patients with Fabry disease and cardiac amyloidosis. Some, generally the younger ones, arrive because at the sports doctor visit they show an altered electrocardiogram; others because they are already aware of other affected family members; others because they arrive at our emergency room with arrhythmias or decompensation, while others still because there is a sudden death in the family and want to understand if there is a genetic problem that involves their own family. The latter, in particular, is the focus of the activity because one of our main objectives is to act to prevent cardiac arrest which, if not resuscitated in time, leads to “sudden death”. 

In just over eight years, the Centre's development has been remarkable. Tell us a few figures 

We have really grown a lot. In 2014 we started with just one weekly clinic, today we receive patients every weekday. We count about thirty a week, with a catchment area of ​​our region for about 70%, but also extended to the rest of Italy. I must also add a small number of patients who come from abroad, usually Italians who prefer to be treated with us rather than in the country of residence. They come from Belgium, Holland and even England. 

How is the Center structured in addition to the clinics? 

There is a cardiology department where we hospitalize patients with various problems: from those who need more invasive investigations, such as an exercise hemodynamic evaluation or an electrophysiological study, to those who have to install a defibrillator (ICD) or are hospitalized for heart failure. We also have cardiological rehabilitation, in addition to the latest generation cardiac magnetic resonance and coronary CT scan. The laboratory where genetic investigations are carried out and a research center that collaborates with various scientific organizations at an international level are also fundamental. The team involved includes 25 professionals including doctors and researchers, in addition to physiotherapists, nurses and auxiliary staff. 

Tell us which patients come to you and which path you reserve for them 

Our patients are mostly adults, mostly between 30 and 60 years old. When the patient with a suspected or confirmed cardiomyopathy comes to us, we take the sample for the genetic test, analyzed with state-of-the-art methods (Next Generation Sequencing), obviously if the patient agrees. In about three months, all the genes known to date as responsible for the disease are evaluated. Family members are asked to do a complete cardiological evaluation and, if the genetic defect responsible for cardiomyopathy is identified, also a search for the mutated gene. Obviously, we also combine these investigations with the most appropriate therapies, if necessary. 

What use is made today of these advanced genetic investigation methods? 

We make a very careful use of them, mind you, because they are very expensive investigations entirely borne by the National Health Service and cannot be carried out on the carpet. It is essential to know that these analyzes must be carried out in certified centers of great experience because there are variants of uncertain significance that if they are incorrectly labeled as pathogenetic variants, that is responsible for Cardiomyopathy, can lead to errors that are potentially harmful for the patient. 

What are the areas of intervention that you intend to develop in the immediate future? 

Surely the clinical research sector, the only one that allows us an ever more precise understanding of the mechanisms of the disease. We are participating in various innovative studies, nationally and internationally, on cutting-edge drugs to offer new therapies to our patients. 

And then we intend to collaborate with the AICARM Association to increase the knowledge of Cardiomyopathies in individual patients and their families. 

On 28 and 29 October 2022 we will organize in Milan a course for expert patients on the model of the one created in Florence by AICARM in 2021, with theoretical lessons on cardiomyopathies, accompanied by cardiopulmonary resuscitation courses for their families. For the next year we are planning a course for doctors and cardiologists dedicated to the diagnosis and therapy of cardiomyopathies.