DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE
https://doi.org/10.15829/1560-4071-2016-10-75-79
Abstract
An unusual case presented, of the disease onset as acute coronary syndrome in 65-year old woman. Based on ECG data, laboratory tests, echocardiography, coronary arteriography and Gadolinium MRI of the heart, coronary heart disease was ruled out, and hypertrophic cardiomyopathy (HCM) suspected. The specifics of current case is absence of the classical signs of HCM on echocardiography: LV hypertrophy was not prominent and was symmetric. Apical HCM was suspected due to specific ECG changes with the giant negative T-waves in left precordial leads, and specifics of delayed deposition of contrast media in MRI. Genetics of the patient’s saliva specimen revealed mutation Asp75Asn in myosin binding protein C, which has been previously described just in 7 HCM families. Restricted number of patients with this mutation makes it not possible to be sure of the grade of severity. Dynamic follow-up is recommended of the patient with the aim to prevent disease progression and its complications prevention.
About the Authors
N. S. Krylova
N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia
CCH № 52 of the Department of Health of Moscow, Russia
Russian Federation
Russian Federation
N. G. Poteshkina
N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia
CCH № 52 of the Department of Health of Moscow, Russia
Russian Federation
Russian Federation
A. E. Demkina
CCH № 52 of the Department of Health of Moscow, Russia
Russian Federation
Russian Federation
E. A. Kovalevskaya
N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia
Russian Federation
Russian Federation
Iglesias Monserrat Lorenzo
Hospital Maritimo de Oza, genetics laboratory “HealthInCode”, La Corugna, Spain
Russian Federation
Russian Federation
Garsia Diego
Hospital Maritimo de Oza, genetics laboratory “HealthInCode”, La Corugna, Spain
Russian Federation
Russian Federation
References
1. Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy : A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 2011; Vol. 124, p. 783-831.
2. Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. European Heart Journal. p. 2733-79. doi:10.1093/eurheartj/ehu284. (29 August 2014).
3. Efthimiadis GK, Pagourelias ED, Hadjimiltiades S, et al. Feasibility and Significance of Preclinical Diagnosis in Hypertrophic Cardiomyopathy. Cardiol Rev. 2015 Nov-Dec; 23(6): 297- 302.
4. Ho CY, Abbasi SA, N eilan TG, et al. T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. Circ Cardiovasc Imaging. 2013 May 1; 6(3): 415-22.
5. Rodriguez-Garcia MI, Monserrat L, Ortiz M, et al. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. BMC Med Genet. 2010; 11: 67.
Review
For citations:
Krylova N.S., Poteshkina N.G., Demkina A.E., Kovalevskaya E.A., Lorenzo I.M., Diego G. DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE. Russian Journal of Cardiology. 2016;(10):75-79. (In Russ.) https://doi.org/10.15829/1560-4071-2016-10-75-79
Views:
836
Email this article 