Down syndrome and cardiovascular problems: clinical case and literature review

E.V. Reznik^1,2, T.L. Nguyen¹, T.S. Ilyina¹, E.S. Tokmakova¹, E.M. Dzhobava³, G.N. Golukhov^1,2 

¹Pirogov Russian National Research Medical University, Moscow

²City Clinical Hospital No. 31, Moscow

³Crede Experto Clinic, Moscow 

Complete or partial trisomy of chromosome 21 (Down syndrome) is the most prevalent aneuploidy compatible with the life, occurring with a frequency of approx. 1 of 800 live births. Down syndrome is also the most common genetic disorder associated with congenital heart disease (CHD). At least 50% of all patients with Down syndrome have CHD. The average life expectancy of persons with this disease has increased significantly, from 25 years to 53–58 years. However, cardiovascular complications are still considered as the main factor affecting the life expectancy of these patients, both in childhood and later periods of life. This article describes a clinical case of a 59-year-old female patient with Down syndrome, who had conduction disorders (AVB III, condition after pacemaker implantation) and severe manifestations of multisystem diseases. Also, the authors present an overview of the spectrum and pathogenesis of cardiovascular problems found in patients with this disease. Understanding the multisystem involvement and the specific clinical manifestations of Down syndrome, and timely treatment of cardiovascular disorders would significantly improve the quality of life and increase the longevity of such patients.

Keywords: Down syndrome, congenital heart defects, mental retardation, trisomy 21, chimerism, atrioventricular septal defect, acquired cardiovascular diseases, mitral valve prolapse, aortic regurgitation, premature aging, atherosclerosis, arterial hypertension, ischemic heart disease, pulmonary hypertension, arrhythmia.

For citation: Reznik E.V., Nguyen T.L., Ilyina T.S. et al. Down syndrome and cardiovascular problems: clinical case and literature review. RMJ. 2022;9:35–40.