DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE
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 s...
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| Format: | Article |
| Language: | Russian |
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«FIRMA «SILICEA» LLC
2016-10-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/957 |
| _version_ | 1797856923953922048 |
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| author | N. S. Krylova N. G. Poteshkina A. E. Demkina E. A. Kovalevskaya Iglesias Monserrat Lorenzo Garsia Diego |
| author_facet | N. S. Krylova N. G. Poteshkina A. E. Demkina E. A. Kovalevskaya Iglesias Monserrat Lorenzo Garsia Diego |
| author_sort | N. S. Krylova |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T20:48:25Z |
| format | Article |
| id | doaj.art-0767ab85e30b455eb1a743a60241e7ab |
| institution | Directory Open Access Journal |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| last_indexed | 2024-04-09T20:48:25Z |
| publishDate | 2016-10-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj.art-0767ab85e30b455eb1a743a60241e7ab2023-03-29T21:23:26Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202016-10-01010757910.15829/1560-4071-2016-10-75-79810DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASEN. S. Krylova0N. G. Poteshkina1A. E. Demkina2E. A. Kovalevskaya3Iglesias Monserrat Lorenzo4Garsia Diego5N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia CCH № 52 of the Department of Health of Moscow, RussiaN. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, Russia CCH № 52 of the Department of Health of Moscow, RussiaCCH № 52 of the Department of Health of Moscow, RussiaN. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, RussiaHospital Maritimo de Oza, genetics laboratory “HealthInCode”, La Corugna, SpainHospital Maritimo de Oza, genetics laboratory “HealthInCode”, La Corugna, SpainAn 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.https://russjcardiol.elpub.ru/jour/article/view/957hypertrophic cardiomyopathycoronary arteriographymagneteresonance tomography with gadolinium contrastmyosin-binding protein c gene. |
| spellingShingle | N. S. Krylova N. G. Poteshkina A. E. Demkina E. A. Kovalevskaya Iglesias Monserrat Lorenzo Garsia Diego DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE Российский кардиологический журнал hypertrophic cardiomyopathy coronary arteriography magneteresonance tomography with gadolinium contrast myosin-binding protein c gene. |
| title | DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE |
| title_full | DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE |
| title_fullStr | DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE |
| title_full_unstemmed | DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE |
| title_short | DIAGNOSTICAL EXPLORATION ON THE DISEASE PRESENTED AS ACUTE CORONARY SYNDROME, AT THE AGE OF GENETICS. CLINICAL CASE |
| title_sort | diagnostical exploration on the disease presented as acute coronary syndrome at the age of genetics clinical case |
| topic | hypertrophic cardiomyopathy coronary arteriography magneteresonance tomography with gadolinium contrast myosin-binding protein c gene. |
| url | https://russjcardiol.elpub.ru/jour/article/view/957 |
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