Gemini, 'clothespin' surgery in a young man with Duchenne dystrophy

The first operation in the Western world to reduce the degree of mitral insufficiency on a young man with Duchenne dystrophy was performed at the Gemelli Polyclinic in Rome with a 'clip' on the mitral valve inserted with a minimally invasive endovascular procedure (MitraClip). The life expectancy of patients with Duchenne – reports a note from the Gemelli Polyclinic – has significantly increased in recent years and this operation can improve the quality of life of children with severe mitral insufficiency.

Roberto is just over twenty years old, he is a boy who studies guitar at the Matera conservatory, he has many friends and 'never gets bored', as he himself says in a video on YouTube. One of his greatest passions is cinema, especially American cinema. And he loves the sea. This is why Roberto, who has Duchenne muscular dystrophy, fought so hard to create the first inclusive, accessible and sustainable beach in the Metaponto area. It is called 'The Captain's Dream' and was inaugurated last summer by the municipality of Bernalda, where the boy lives. But he still has many other dreams to realize.

“Roberto is 23 years old – recalls Marika Pane, clinical director of the pediatric Uoc Nemo of Fondazione Policlinico Gemelli and associate professor of child neuropsychiatry at the Catholic University of the Sacred Heart, Rome campus – and we have been following him for 7-8 years. Duchenne's is an important disease, with an unfortunately poor prognosis because to date Duchenne dystrophy has no cure and the average survival age is 27 years. But the natural history of this disease is changing and over the last two decades we have managed to give these kids on average more than 10 years of good quality life.”

For Roberto, “who has a wonderful family around him, the cardiological problem had become important – underlines Pane – in recent times he had had a series of serious and repeated exacerbations of heart failure. With our consultant cardiologist, Dr. Priscilla Lamendola, we first started treatment with Entrsto*, an anti-heart failure drug pioneered in Duchenne patients. And he had responded quite well. But then over time this therapy became less and less effective. And since there was this problem with the mitral valve, Lamendola had suggested this corrective surgery.”

“The boy came to our attention after yet another episode of acute decompensation which had brought him to the emergency room. His diagnosis – explains Carlo Trani, associate professor of Cardiology at the Catholic University of the Sacred Heart, Rome campus and director of the Interventional Cardiology and Invasive Diagnostics Unit of Fondazione Policlinico Gemelli – is of dilated cardiomyopathy, with a very high ejection fraction. reduced; this very dilated heart of his had led to severe mitral insufficiency.”

If the mitral valve, which separates the atrium from the left ventricle, does not 'close' well, during systole the blood instead of going only from the left ventricle towards the aorta, flows back into the left atrium and this has repercussions on the pulmonary circulation, facilitating the appearance of acute pulmonary edema. “We therefore decided to correct this problem – remarks Trani – with an endovascular procedure (Mitraclip*) because the risk of traditional surgery was really too high”.

The procedure is carried out under general anesthesia, with a minimally invasive approach and consists of introducing a vascular catheter, puncturing the femoral vein in the groin. In this way we go up to the right atrium, puncture the interatrial septum to reach the left atrium and the mitral valve. Here the interventional cardiologist advances a sort of 'clip' (clip) inside the catheter which, under trans-esophageal ultrasound guidance, captures the central portion of the two flaps of the mitral valve, reducing the degree of insufficiency. “The operation lasted two hours – explains Trani – and the ultrasound check-up one month later showed a significant reduction in his mitral insufficiency, which went from severe to mild-moderate”.

“Ours is the first center to have introduced, for years now, modern anti-heart failure therapies in the treatment of people with Duchenne dystrophy – concludes Lamendola, cardiologist echocardiographer at the Uosd of Non-invasive Cardiological Diagnostics, directed by Professor Gaetano Antonio Lanza – These kids have a limited life expectancy, but it is right to offer them all the therapeutic possibilities currently available because they show a profound attachment to life. After the surgery, his mother sent me a message to thank me: 'Every morning, when I see my son playing the guitar or when I help him get ready to go out with friends, I realize that you have given him his life back.' Words that are worth all our studies, the work and the time we dedicate to patients.”