Abstract
Williams syndrome (WS) is a genetic disease characterized by polymorphic manifestations, the most characteristic of which are malformations of the face of various severity (the characteristic appearance is the “elf face”, quite typical for most patients. The syndrome is also characterized by endocrine disorders (hypercalcemia, hypothyroidism), various types of damage to the cardiovascular system, musculoskeletal system, connective tissue (hernia) and central nervous system (muscular hypotension, mental retardation). The article presents and discusses the own observation of WS in a child aged 6 months operated on for severe supravalvular aortic stenosis and pulmonary artery (PA) branch stenosis. The patient underwent elimination of supravalvular aortic stenosis by symmetrical Brom aortoplasty with reconstruction of the ascending aorta using autopericardium and stenting of the branches of PA to ensure the physiological parameters of pulmonary blood flow. Patients with detected WS, proceeding asymptomatically or with manifestations of any types of damage to the cardiovascular system, operated on or observed, should be examined on the basis of a qualified cardiac surgery clinic, especially during the first year of life, in addition to mandatory observation by many other specialists: pediatrician, geneticist, endocrinologist, neurologist throughout life.
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About the authors
- Aleksey E. Chernogrivov, Dr. Med. Sci., Cardiovascular Surgeon; ORCID
- Aleksandr A. Esayan, Cand. Med. Sci., Senior Researcher; ORCID
- Inessa E. Nefedova, Dr. Med. Sci., Head of Department; ORCID
- ienefedova@bakulev.ru
Dmitriy V. Adkin, Cand. Med. Sci., Pediatric Cardiologist; ORCID
- Elizaveta S. Dorokhina, Resident Physician; ORCID
