Interview with Prof. Giuseppe Limongelli
di Francesca Conti
To begin with, tell us something about yourself: how did you begin your professional career?
I am a cardiologist. In 2001 I had the intuition to dedicate myself to rare genetic diseases and, to deepen this field, I decided to spend some time in London at the cardiomyopathy research center directed by professors Elliot and McKenna. It was there that I became passionate about cardiomyopathies and discovered the world of rare diseases. Since then, I have cultivated this passion, although, of course, my work has not been limited to this: I deal with heart failure, pediatric cardiology and much more.
You have therefore built a multidisciplinary experience. How has your work evolved over the years?
In recent years, starting around 2016-2017, I have contributed to the creation of a unit dedicated to rare genetic heart diseases, which I coordinate today. This unit is recognized as a European reference center within the ERN (European Reference Networks) and is the only center of its kind in Southern Italy. It is organized in a peculiar way: we have pediatric cardiologists trained to treat adult patients and vice versa. Thanks to this flexibility, our clinic can accommodate patients of all ages, from newborns to the elderly, dealing with different pathologies, such as amyloidosis, Marfan syndrome, Fabry disease, sarcoidosis and many others. Recently, we have also activated an outpatient clinic for relatives of subjects who died suddenly or were resuscitated from cardiac arrest and we are working on one dedicated to high-risk pregnancies.
We also have a multidisciplinary clinic, where in addition to cardiologists, our team includes geneticists, a nutritionist, and specialists from different disciplines, such as nephrologists, neurologists, orthopedists, and ophthalmologists. We also have a regional genetics clinic, coordinated by an expert geneticist, who collaborates with younger geneticists and medical genetics specialists from the Vanvitelli University. We also work with social workers and psychologists, who support both the rare disease center and the rare genetic disease unit. This multidisciplinary network is essential to address complex pathologies and ensure an integrated approach to the patient.
Are you also involved at a regional level?
Absolutely. We coordinate the Regional Center for Rare Diseases of Campania, which manages a regional registry of all rare diseases, not just cardiac ones. We also offer a toll-free helpline to support patients with medical, pharmaceutical and social issues. Our staff includes counseling experts, computer scientists, statisticians, an administrator and even a lawyer, as well as a communications and social media specialist. This work has been the result of constant effort over the past twenty years, but we have managed to build this large and multidisciplinary group over the past seven years. In addition to my role in the rare genetic diseases unit and the regional coordination center, I am also the scientific director of the NEMO Center for Neuromuscular Diseases in Naples and a member of the National Commission for Rare Diseases.
Speaking of larger networks, are you connected to international networks?
We are part of several international networks. We collaborate with the International Bicuspid Aortic Valve Consortium (BAVCon) in the United States, with the International Cardiomyopathy Network in London and with the American Marfan Foundation. In addition, we are part of networks dedicated to rare genetic diseases such as Cardiomyopathies resulting from genetic mutations of the “RAS” system (called “rasopathies”), which include Noonan, Costello, Leopard syndrome, etc. These collaborations are essential to advance research and ensure the best treatment for patients.
What are the future projects?
The main goal is to stabilize and strengthen what has been built so far. Creating a structure like this is very difficult, but maintaining it requires even more commitment. It requires the support of the institutions, the hospital company and the university, in addition to the continuous work of the clinical and research team. The risk, especially in a complex healthcare system that is increasingly turning towards the private sector, is that rare diseases are considered marginal. In reality, they are devastating pathologies that cause heart failure, sudden death and involve entire families, so prevention is essential. Our work is guided by the goal of applying the National Rare Disease Plan and Law 175, so that no patient is left behind.
Giuseppe Limongelli graduated in Medicine and Surgery at the Second University of Naples (1997), where he also specialized in Cardiology and attended the Master in Nephrology (2001). From 2002 to 2003 he was a Research Fellow at the Genotyping Lab & Heart Failure Clinic of St George's Hospital Medical School in London, then from 2003 to 2004 at the University College of London. In 2007 he obtained the title of "European Doctor in Biotechnology". In 2017 he became associate professor of Cardiology at the Department of Translational Sciences of the University of Campania "Luigi Vanvitelli", and since 2020 he has been full professor. He is director of the Rare and Hereditary Cardiovascular Diseases Unit of the Monaldi Hospital. Since 2018 he has also been Director of the coordination of rare diseases of the Campania Region and is a member of the National Committee for Rare Diseases of the Ministry of Health. He also holds the role of scientific director of the NeMO center in Naples.