Email this article 
Post a Comment A clinical case of hypertrophic cardiomyopathy and family hyperlipidemia
- Authors: Dankovtseva E.N.1,2, Zateyshchikov D.A.1,2,3
-
Affiliations:
- City Clinical Hospital № 51 of Moscow Healthcare Department
- Central State Medical Academy of Administration of the President of the Russian Federation
- Federal Scientific and Clinical Center of Specialized Types of Medical Care and Medical Technologies of the Federal Medical and Biological Agency of Russia
- Issue: Vol 10, No 3 (2019)
- Pages: 97-101
- Section: Case reports
- URL: https://journals.rcsi.science/clinpractice/article/view/16143
- DOI: https://doi.org/10.17816/clinpract10397-101
- ID: 16143
Cite item
Abstract
Introduction of the next generation sequencing to the clinical practice made it possible to accurately diagnose a number of cardiac diseases, and to study accumulation of pathological variants of genes in families thus identifying individuals at risk of the disease much earlier. The authors present a patient with two genetically determined cardiological diseases — familial hyperlipidemia and hypertrophic cardiomyopathy.
Full Text
##article.viewOnOriginalSite##About the authors
Elena N. Dankovtseva
City Clinical Hospital № 51 of Moscow Healthcare Department; Central State Medical Academy of Administration of the President of the Russian Federation
Author for correspondence.
Email: e-n-d@bk.ru
ORCID iD: 0000-0002-0831-1490
SPIN-code: 9129-8098
Ph.D. (medicine), Head of Heart Failure Department, Associate Professor of the Department of internal medicine, cardiology, functional diagnostics, and course of nephrology
Russian Federation, MoscowDmitry A. Zateyshchikov
City Clinical Hospital № 51 of Moscow Healthcare Department; Central State Medical Academy of Administration of the President of the Russian Federation; Federal Scientific and Clinical Center of Specialized Types of Medical Care and Medical Technologies of the Federal Medical and Biological Agency of Russia
Email: dz@bk.ru
ORCID iD: 0000-0001-7065-2045
SPIN-code: 1694-3031
Scopus Author ID: 6506179693
ResearcherId: D-6575-2012
Doctor of medicine, Head of Primary Vascular Department, Head of the Department of internal medicine, cardiology, functional diagnostics, and course of nephrology; leading researcher of the genetic laboratory
Russian Federation, MoscowReferences
- Catapano AL, Graham I, De Backer G, et al. 2016 ESC/EAS Guidelines for the management of dyslipidaemias. Rev Esp Cardiol (Engl Ed). 2017;70(2):115. doi: 10.1016/j.rec.2017.01.002.
- Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the european atherosclerosis society. Eur Heart J. 2013;34(45):3478–3490a. doi: 10.1093/eurheartj/eht273.
- Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab. 2012;97(11):3956–3964. doi: 10.1210/jc.2012-1563.
- de Ferranti SD, Rodday AM, Mendelson MM, et al. Prevalence of familial hypercholesterolemia in the 1999 to 2012 united states national health and nutrition examination surveys (NHANES). Circulation. 2016;133(11):1067–1072. doi: 10.1161/CIRCULATIONAHA.115.018791.
- Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the heart rhythm society (HRS) and the european heart rhythm association (EHRA). Heart Rhythm. 2011;8(8):1308–1339. doi: 10.1016/j.hrthm.2011.05.020.
- Charron P, Arad M, Arbustini E, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the european society of cardiology working group on myocardial and pericardial diseases. Eur Heart J. 2010;31(22):2715–1726. doi: 10.1093/eurheartj/ehq271.
Supplementary files
