Moscow doctors performed an aortic valve replacement in a patient with progeria at the federal state budgetary institution "The National Medical Research Center for Cardiovascular Surgery". A.N. Bakulev" of the Ministry of Health of Russia, a young man with progeria and critical aortic valve stenosis came to the Ministry of Health of Russia. Progeria is an orphan genetic disease associated with premature aging. It occurs at a frequency of 1 case in 4-8 million births. During adolescence, the patient's parents noticed that he stopped growing and his facial features became sharper. Then the genetic disease was discovered. Also, since childhood, the man was diagnosed with a congenital heart defect - a bilateral aortic valve. The patient has not been seen by a cardiologist during the last two years. He began to suffer from severe weakness, apathy and headaches. An echocardiogram showed that the bicuspid valve had formed a critical stenosis. The patient was referred to the center in Bakulev. Further examination confirmed the seriousness of the situation. In addition to stenosis, the man was diagnosed with dilatation of the ascending aorta, grade 2 pulmonary hypertension and initial manifestations of heart failure. Surgery is required. "The case is unique in the combination of progeria and severe stenosis of the aorta in such a young patient. Progeria affects the condition of the connective tissue, which makes the operation technically difficult," explained the chief freelance specialist, pediatric cardiologist of the Russian Ministry of Health, MD, Professor Igor Kovalev. To evaluate the surgical strategy and anesthesia management, a joint consultation was held with medical geneticists from the Pediatric Clinical Research Institute named after him. Yu. non. and Valtishcheva. "In the prehospital phase, we discussed with endovascular surgeons the possibility of alternative prostheses - transcatheter implantation. However, due to unfavorable anatomy, i.e. the low position of the ostia of the coronary artery, such an operation was prohibited due to the risk of occlusion.

Moscow doctors performed an aortic valve replacement in a patient with progeria at the federal state budgetary institution "The National Medical Research Center for Cardiovascular Surgery". A.N. Bakulev" of the Ministry of Health of Russia, a young man with progeria and critical aortic valve stenosis came to the Ministry of Health of Russia. Progeria is an orphan genetic disease associated with premature aging. It occurs at a frequency of 1 case in 4-8 million births. During adolescence, the patient's parents noticed that he stopped growing and his facial features became sharper. Then the genetic disease was discovered. Also, since childhood, the man was diagnosed with a congenital heart defect - a bilateral aortic valve. The patient has not been seen by a cardiologist during the last two years. He began to suffer from severe weakness, apathy and headaches. An echocardiogram showed that the bicuspid valve had formed a critical stenosis. The patient was referred to the center in Bakulev. Further examination confirmed the seriousness of the situation. In addition to stenosis, the man was diagnosed with dilatation of the ascending aorta, grade 2 pulmonary hypertension and initial manifestations of heart failure. Surgery is required. "The case is unique in the combination of progeria and severe stenosis of the aorta in such a young patient. Progeria affects the condition of the connective tissue, which makes the operation technically difficult," explained the chief freelance specialist, pediatric cardiologist of the Russian Ministry of Health, MD, Professor Igor Kovalev. To evaluate the surgical strategy and anesthesia management, a joint consultation was held with medical geneticists from the Pediatric Clinical Research Institute named after him. Yu. non. and Valtishcheva. "In the prehospital phase, we discussed with endovascular surgeons the possibility of alternative prostheses - transcatheter implantation. However, due to unfavorable anatomy, i.e. the low position of the ostia of the coronary artery, such an operation was prohibited due to the risk of occlusion.