CHARACTERISTICS AND RESULTS OF A SURGICAL TREATMENT OF PATIENTS WITH A HYPERTROPHIC CARDIOMYOPATHY
Hypertrophic cardiomyopathy (HCM) is diagnosed in a presence of severe hypertrophy of the walls of the left ventricle (LV) with a predominant remodeling of n the interventricular septum and the posterior LV wall, when the LV outflow tract (LVOT) begins to obstruct outflow hemodynamics. Because of a...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Al-Farabi Kazakh National University
2022-06-01
|
| Series: | Interdisciplinary Approaches to Medicine |
| Subjects: | |
| Online Access: | https://appmed.kaznu.kz/index.php/medicine/article/view/97 |
| _version_ | 1827252644295475200 |
|---|---|
| author | Zh.N. Nurbay R.M. Tuleutayev A.T. Jumabekov K.B. Abzaliyev M.A. Zhakaev |
| author_facet | Zh.N. Nurbay R.M. Tuleutayev A.T. Jumabekov K.B. Abzaliyev M.A. Zhakaev |
| author_sort | Zh.N. Nurbay |
| collection | DOAJ |
| description |
Hypertrophic cardiomyopathy (HCM) is diagnosed in a presence of severe hypertrophy of the walls of the left ventricle (LV) with a predominant remodeling of n the interventricular septum and the posterior LV wall, when the LV outflow tract (LVOT) begins to obstruct outflow hemodynamics. Because of an extreme genetic etiology diversity of the pathology, the genes that cause it e remain unknown in about 40% of patients with HCM. With the development of NGS technologies, the work of identifying of new mutations has become slightly easier. In addition to rare pathogenic variants of the sarcomeric protein gene, relatively common genetic variants associated with HCM are increasingly being recognized. We performed an examination of 43 patients at the RIOC and ID JSC from January 2017 to August 2021 were examined, 21 of whom had severe HCM with LVOT obstruction that required surgical treatment. Pathology in female population occurred in 67% of cases, in men it was 2 times less - 33 22 patients (51%) had an obstructive form of HCM. The other 21 patients have initial signs of HCM (are under observation) and 35% were asymptomatic patients. IT was established that 56% of the cohort had different types of mutations, in which it was found that 75% of patients had monomutations, and 25% had 2 mutations. In most cases, mutations were found in the myosin heavy chain (MYH7 - 42%) and myosin-binding protein C (MYBPC3 - 17%). In the group ofpatients that underwent a surgical treatment, 12 patients (57%) of patients had various mutations. Also, in 4 patients, we tracked the family history. Morrow myectomy was performed in 21 patients, 95% of them additionally underwent mitral valve repair with removal of secondary chords. In all operated patients, the pressure gradient on the LVOT decreased from 2 to 7+ 1.7 mm Hg. There were no lethal outcomes.
|
| first_indexed | 2024-03-07T14:11:20Z |
| format | Article |
| id | doaj.art-5682df0cd61741558147b003a4453d6c |
| institution | Directory Open Access Journal |
| issn | 2709-2968 2709-2976 |
| language | English |
| last_indexed | 2025-03-22T00:38:36Z |
| publishDate | 2022-06-01 |
| publisher | Al-Farabi Kazakh National University |
| record_format | Article |
| series | Interdisciplinary Approaches to Medicine |
| spelling | doaj.art-5682df0cd61741558147b003a4453d6c2024-05-14T07:22:08ZengAl-Farabi Kazakh National UniversityInterdisciplinary Approaches to Medicine2709-29682709-29762022-06-013110.26577/IAM.2022.v3.i1.01CHARACTERISTICS AND RESULTS OF A SURGICAL TREATMENT OF PATIENTS WITH A HYPERTROPHIC CARDIOMYOPATHYZh.N. Nurbay 0 R.M. Tuleutayev1 A.T. Jumabekov2K.B. Abzaliyev 3M.A. Zhakaev 4JSC “Research Institute of Cardiology and Internal Diseases”, Almaty, KazakhstanJSC “Research Institute of Cardiology and Internal Diseases”, Almaty, KazakhstanKazakhstan Medical University “KSPU” Almaty, KazakhstanAl-Farabi Kazakh National University, Almaty, KazakhstanKazakhstan Medical University “KSPU” Almaty, Kazakhstan Hypertrophic cardiomyopathy (HCM) is diagnosed in a presence of severe hypertrophy of the walls of the left ventricle (LV) with a predominant remodeling of n the interventricular septum and the posterior LV wall, when the LV outflow tract (LVOT) begins to obstruct outflow hemodynamics. Because of an extreme genetic etiology diversity of the pathology, the genes that cause it e remain unknown in about 40% of patients with HCM. With the development of NGS technologies, the work of identifying of new mutations has become slightly easier. In addition to rare pathogenic variants of the sarcomeric protein gene, relatively common genetic variants associated with HCM are increasingly being recognized. We performed an examination of 43 patients at the RIOC and ID JSC from January 2017 to August 2021 were examined, 21 of whom had severe HCM with LVOT obstruction that required surgical treatment. Pathology in female population occurred in 67% of cases, in men it was 2 times less - 33 22 patients (51%) had an obstructive form of HCM. The other 21 patients have initial signs of HCM (are under observation) and 35% were asymptomatic patients. IT was established that 56% of the cohort had different types of mutations, in which it was found that 75% of patients had monomutations, and 25% had 2 mutations. In most cases, mutations were found in the myosin heavy chain (MYH7 - 42%) and myosin-binding protein C (MYBPC3 - 17%). In the group ofpatients that underwent a surgical treatment, 12 patients (57%) of patients had various mutations. Also, in 4 patients, we tracked the family history. Morrow myectomy was performed in 21 patients, 95% of them additionally underwent mitral valve repair with removal of secondary chords. In all operated patients, the pressure gradient on the LVOT decreased from 2 to 7+ 1.7 mm Hg. There were no lethal outcomes. https://appmed.kaznu.kz/index.php/medicine/article/view/97gene, mutations, patient characteristics, hypertrophic cardiomyopathy, Morrow myectomy |
| spellingShingle | Zh.N. Nurbay R.M. Tuleutayev A.T. Jumabekov K.B. Abzaliyev M.A. Zhakaev CHARACTERISTICS AND RESULTS OF A SURGICAL TREATMENT OF PATIENTS WITH A HYPERTROPHIC CARDIOMYOPATHY Interdisciplinary Approaches to Medicine gene, mutations, patient characteristics, hypertrophic cardiomyopathy, Morrow myectomy |
| title | CHARACTERISTICS AND RESULTS OF A SURGICAL TREATMENT OF PATIENTS WITH A HYPERTROPHIC CARDIOMYOPATHY |
| title_full | CHARACTERISTICS AND RESULTS OF A SURGICAL TREATMENT OF PATIENTS WITH A HYPERTROPHIC CARDIOMYOPATHY |
| title_fullStr | CHARACTERISTICS AND RESULTS OF A SURGICAL TREATMENT OF PATIENTS WITH A HYPERTROPHIC CARDIOMYOPATHY |
| title_full_unstemmed | CHARACTERISTICS AND RESULTS OF A SURGICAL TREATMENT OF PATIENTS WITH A HYPERTROPHIC CARDIOMYOPATHY |
| title_short | CHARACTERISTICS AND RESULTS OF A SURGICAL TREATMENT OF PATIENTS WITH A HYPERTROPHIC CARDIOMYOPATHY |
| title_sort | characteristics and results of a surgical treatment of patients with a hypertrophic cardiomyopathy |
| topic | gene, mutations, patient characteristics, hypertrophic cardiomyopathy, Morrow myectomy |
| url | https://appmed.kaznu.kz/index.php/medicine/article/view/97 |
| work_keys_str_mv | AT zhnnurbay characteristicsandresultsofasurgicaltreatmentofpatientswithahypertrophiccardiomyopathy AT rmtuleutayev characteristicsandresultsofasurgicaltreatmentofpatientswithahypertrophiccardiomyopathy AT atjumabekov characteristicsandresultsofasurgicaltreatmentofpatientswithahypertrophiccardiomyopathy AT kbabzaliyev characteristicsandresultsofasurgicaltreatmentofpatientswithahypertrophiccardiomyopathy AT mazhakaev characteristicsandresultsofasurgicaltreatmentofpatientswithahypertrophiccardiomyopathy |