Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy
The clinical, instrumental and molecular-genetic studies for proband and family members for identification of family form of left ventricular noncompaction cardiomyopathy (LVNC) presented in the article. According to the results of the examination, the diagnosis LVNC was made. Drug therapy was adjus...
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Столичная издательская компания
2019-09-01
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| Series: | Рациональная фармакотерапия в кардиологии |
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| Online Access: | https://www.rpcardio.online/jour/article/view/2005 |
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| author | O. V. Kulikova A. N. Meshkov R. P. Myasnikov A. V. Kiseleva S. N. Koretsky A. A. Zharikova M. S. Kharlap E. A. Mershina V. E. Sinitsyn O. P. Skirko I. A. Efimova M. S. Pokrovskaya S. A. Boytsov O. M. Drapkina |
| author_facet | O. V. Kulikova A. N. Meshkov R. P. Myasnikov A. V. Kiseleva S. N. Koretsky A. A. Zharikova M. S. Kharlap E. A. Mershina V. E. Sinitsyn O. P. Skirko I. A. Efimova M. S. Pokrovskaya S. A. Boytsov O. M. Drapkina |
| author_sort | O. V. Kulikova |
| collection | DOAJ |
| description | The clinical, instrumental and molecular-genetic studies for proband and family members for identification of family form of left ventricular noncompaction cardiomyopathy (LVNC) presented in the article. According to the results of the examination, the diagnosis LVNC was made. Drug therapy was adjusted, and a cardioverter defibrillator was implanted for the primary prevention of sudden cardiac death. Given the hereditary nature of the disease, family screening was conducted. By the family screening the disease was diagnosed in the mother of proband. Later, was made exome sequencing in a group of genes related to the development of left ventricular noncompaction cardiomyopathy. One likely pathogenic variant (rs1471414348, stop codon) in the TTN gene was detected. The discovered variant was validated by Sanger sequencing and was detected only in the proband and his mother, and was absent in other relatives. There were no other pathogenic and probably pathogenic variants in genes associated with the development of left ventricular noncompaction and other cardiomyopathies. As a result of family screening the new cases were diagnosed, the pathogenic variant of the TTN gene was identified, that is probably responsible for the development of the LVNC phenotype. |
| format | Article |
| id | doaj-art-46525b4324384d97a3713fec82bc19e6 |
| institution | Kabale University |
| issn | 1819-6446 2225-3653 |
| language | English |
| publishDate | 2019-09-01 |
| publisher | Столичная издательская компания |
| record_format | Article |
| series | Рациональная фармакотерапия в кардиологии |
| spelling | doaj-art-46525b4324384d97a3713fec82bc19e62025-08-23T10:00:31ZengСтоличная издательская компанияРациональная фармакотерапия в кардиологии1819-64462225-36532019-09-0115452452910.20996/1819-6446-2019-15-4-524-5291638Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction CardiomyopathyO. V. Kulikova0A. N. Meshkov1R. P. Myasnikov2A. V. Kiseleva3S. N. Koretsky4A. A. Zharikova5M. S. Kharlap6E. A. Mershina7V. E. Sinitsyn8O. P. Skirko9I. A. Efimova10M. S. Pokrovskaya11S. A. Boytsov12O. M. Drapkina13National Medical Research Center for Preventive MedicineNational Medical Research Center for Preventive MedicineNational Medical Research Center for Preventive MedicineNational Medical Research Center for Preventive MedicineNational Medical Research Center for Preventive MedicineNational Medical Research Center for Preventive MedicineNational Medical Research Center for Preventive MedicineLomonosov Moscow State UniversityLomonosov Moscow State UniversityNational Medical Research Center for Preventive MedicineNational Medical Research Center for Preventive MedicineNational Medical Research Center for Preventive MedicineNational Medical Research Center of CardiologyNational Medical Research Center for Preventive MedicineThe clinical, instrumental and molecular-genetic studies for proband and family members for identification of family form of left ventricular noncompaction cardiomyopathy (LVNC) presented in the article. According to the results of the examination, the diagnosis LVNC was made. Drug therapy was adjusted, and a cardioverter defibrillator was implanted for the primary prevention of sudden cardiac death. Given the hereditary nature of the disease, family screening was conducted. By the family screening the disease was diagnosed in the mother of proband. Later, was made exome sequencing in a group of genes related to the development of left ventricular noncompaction cardiomyopathy. One likely pathogenic variant (rs1471414348, stop codon) in the TTN gene was detected. The discovered variant was validated by Sanger sequencing and was detected only in the proband and his mother, and was absent in other relatives. There were no other pathogenic and probably pathogenic variants in genes associated with the development of left ventricular noncompaction and other cardiomyopathies. As a result of family screening the new cases were diagnosed, the pathogenic variant of the TTN gene was identified, that is probably responsible for the development of the LVNC phenotype.https://www.rpcardio.online/jour/article/view/2005ttnexome sequencingleft ventricular noncomaction cardiomyopathycardiomyopathyheart failure |
| spellingShingle | O. V. Kulikova A. N. Meshkov R. P. Myasnikov A. V. Kiseleva S. N. Koretsky A. A. Zharikova M. S. Kharlap E. A. Mershina V. E. Sinitsyn O. P. Skirko I. A. Efimova M. S. Pokrovskaya S. A. Boytsov O. M. Drapkina Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy Рациональная фармакотерапия в кардиологии ttn exome sequencing left ventricular noncomaction cardiomyopathy cardiomyopathy heart failure |
| title | Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy |
| title_full | Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy |
| title_fullStr | Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy |
| title_full_unstemmed | Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy |
| title_short | Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy |
| title_sort | pathogenic variant rs1471414348of the ttn gene in the patient with familial left venticular noncompaction cardiomyopathy |
| topic | ttn exome sequencing left ventricular noncomaction cardiomyopathy cardiomyopathy heart failure |
| url | https://www.rpcardio.online/jour/article/view/2005 |
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