Aortic Valve Stenosis
Among the major problems associated with progeria are those related to the heart and blood vessels, such as vessel occlusion, heart attacks, arteriosclerosis and the like, which is why patients' life expectancy is extremely shortened. Sammy, like many others, had to deal with this problem and had been living with it for years, when, in September 2017, during one of the routine examinations at Boston Children's Hospital, the situation showed a worrying clinical picture: the aortic valve, through which blood passes from the heart to the rest of the body, was heavily calcified and threatened to close any day now. It could have happened in days, weeks, months, nobody knew, but it was going to happen.
Unfortunately, operating on patients with progeria is extremely risky because of the anaesthesia, the lack of experience, and the fact that the problems presented by patients with progeria are often related to old age, albeit on a body the size of a child. A months-long discussion ensued between the doctors of the Boston team, the only ones to systematically follow almost all recognised cases of progeria in the world, Sammy, his family and other researchers and doctors who were friends of Sammy, who not only gave a scientific opinion on the case, but also a human one. Among them were Lino Tessarollo, who as a researcher and friend has been following Sammy since he was five years old, or Carlos Lopez Otin, one of the world's leading progeria experts, at whom Sammy did his three-year degree thesis, and his team, who all came to Italy together to discuss the case in person, or Sammy's closest friends who supported him during that difficult and worry-filled period of choice. Although the basic idea was that, yes, he would have to face the situation head-on, try to do something and not wait for events to evolve in the direction everyone knew, all the various surgical proposals were either not safe enough or presented too high a risk.
Discussion on the operation
Everything changed when Giovanna Lattanzi, director of the Italian Laminopathy Network of which we are a part, put us in touch with Prof. Francesco Musumeci, a world-famous heart surgeon working at the San Camillo-Forlanini Hospital in Rome, famous for his eclectic approach to even the most difficult cases. Thanks to his experience, which had seen him at the beginning of his career as a surgeon operating on children and currently working mostly on the elderly, Prof. Musumeci immediately realised that he was able to treat Sammy's aortic valve calcification with a non excessively invasive and effective approach, so that he could solve the problem without compromising rehabilitation and the return to normal daily activities.
After a careful study of the case, progeria, and the various precautions to be taken in this regard by Prof. Musumeci and his multidisciplinary team, and convincing the Boston team of the feasibility of the operation, who offered every support in providing the necessary information), while not concealing the high risks of an operation never before attempted in a case of progeria, everything was ready.
Hope for patients with Progeria
On 28 January 2019, Prof. Musumeci performed an aortic valve replacement on Sammy via TAVI through an incision at the tip of the heart, without ever interrupting cardiac activity. The operation, although difficult and lengthy, was a success and in addition to solving the problem, it allowed Sammy, with a short hospital stay and in just over a month and a half, to resume his daily activities, with the obvious help of a heart that was finally able to do its work at full capacity after a long time.
The surgery performed by prof. Musumeci and his team, with the help of the hospital staff who did their utmost to ensure that everything went well, opened up a new avenue for treating other cases of progeria requiring this type of intervention: After bringing together various specialists in the field of cardiac surgery, paediatrics and leading experts on progeria and ageing, a team led by the PRF discussed the data gathered from this type of intervention at the Progeria Aortic Intervention Summit, of which the association was a participant, and came up with other interventions to better meet the patients' medical needs. Two more patients were thus successfully operated on at Boston Children's Hospital by Dr. Pedro Del Nido.
Sammy and Prof. Francesco Musumeci a few days after the aortic valve replacement surgery.
To find out more about Progeria and related research, we recommend relying on the Progeria Research Foundation website, which collects the most important scientific articles published over the years:
https://www.progeriaresearch.org/whats-new-in-progeria-research/
On PubMed you can find numerous other related articles that may be of interest to a specialised audience:
