DES gene mutation in a family of proband with myofibrillary myopathy and non-compaction cardiomyopathy, resulted in cardiac transplantation
Мясников Р. П., Шчербакова Н. В., Куликова О. В., Мешков А. Н., Харлап М. С., Киселева А. В., Жарикова А. А., Дадали Е. Л., Семенова Н. А., Корецкy С. Н., Благова О. В., Мершина Е. А., Синицын В. Е., Драпкина О. М., Боyцов С. А.
Российский кардиологический журнал
Т. 150, Вып. 10, С. 9-16
Опубликовано: 2017
Тип ресурса: Статья
DOI:10.15829/1560-4071-2017-10-9-16
Аннотация:
Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy. Material and methods. The object of the study: proband with non-compaction cardiomyopathy and his relatives of 1 and 2 degrees of kinship. All participants underwent clinical and instrumental examination including: blood collection for genetic testing, complete cell blood count, biochemical blood assay (levels of total protein, alanine-aminotransferase, aspartate aminotransferase, lactate dehydrogenase, bilirubin, urea, creatinine, uric acid, potassium, sodium, creatinekinase, MB-fraction of creatinekinase, brain natriuretic peptides, C-reactive protein), coagulation profile (partial thromboplastin time, thrombin clotting time, levels of antithrombin III, INR, D-dimer), ECG, Holter ECG monitoring, cardiac MRI). The non-compaction myocardium was diagnosed ac
Ключевые слова:
Cardiac transplantation; Cardiomyopathy; DES; Exome sequencing; Heart failure; Left ventricular non-compaction cardiomyopathy; Myofibrillar myopathy; Skeletal myopathy; Sudden cardiac death
alanine aminotransferase; antithrombin III; aspartate aminotransferase; bilirubin; brain natriuretic peptide; C reactive protein; creatine kinase; creatine kinase MB; creatinine; D dimer; lactate dehydrogenase; potassium; protein; sodium; urea; uric acid; alanine aminotransferase blood level; Article; aspartate aminotransferase blood level; bilirubin blood level; blood biochemistry; blood cell count; blood clotting; blood sampling; cardiomyopathy; cardiovascular magnetic resonance; clinical examination; consanguinity; creatine kinase blood level; creatinine blood level; des gene; echocardiography; electrocardiogram; family; first-degree relative; gene; gene amplification; gene library; gene mutation; genetic association; genetic screening; genetic variability; heart transplantation; Holter monitoring; human; international normalized ratio; lactate dehydrogenase blood level; myofibrillary myopathy; partial thromboplastin time; potassium blood level; protein blood level; second-degree re
Язык текста: Русский
ISSN: 2618-7620
Мясников Р. П.
Шчербакова Н. В.
Куликова О. В.
Мешков А. Н.
Харлап М. С.
Киселева А. В.
Жарикова А. А.
Дадали Е. Л.
Семенова Н. А.
Корецкy С. Н.
Благова О. В. Ольга Владимировна 1974-
Мершина Е. А.
Синицын В. Е. Валентин Евгеньевич 0001-
Драпкина О. М. Оксана Михайловна 1969-
Боyцов С. А.
Myasnikov R. P.
Shcherbakova N. V.
Kulikova O. V.
Meshkov A. N.
Kharlap M. S.
Kiseleva A. V.
Zharikova A. A.
Dadali E. L.
Semenova N. A.
Koretsky S. N.
Blagova O. V. Ol`ga Vladimirovna 1974-
Mershina E. A.
Sinitsy'n V. E. Valentin Evgenyevich 0001-
Drapkina O. M. Oksana Mikhaylovna 1969-
Boytsov S. A.
DES gene mutation in a family of proband with myofibrillary myopathy and non-compaction cardiomyopathy, resulted in cardiac transplantation
Текст визуальный непосредственный
Российский кардиологический журнал
ООО "Силицея-Полиграф"
Т. 150, Вып. 10 С. 9-16
2017
Статья
Cardiac transplantation Cardiomyopathy DES Exome sequencing Heart failure Left ventricular non-compaction cardiomyopathy Myofibrillar myopathy Skeletal myopathy Sudden cardiac death
alanine aminotransferase antithrombin III aspartate aminotransferase bilirubin brain natriuretic peptide C reactive protein creatine kinase creatine kinase MB creatinine D dimer lactate dehydrogenase potassium protein sodium urea uric acid alanine aminotransferase blood level Article aspartate aminotransferase blood level bilirubin blood level blood biochemistry blood cell count blood clotting blood sampling cardiomyopathy cardiovascular magnetic resonance clinical examination consanguinity creatine kinase blood level creatinine blood level des gene echocardiography electrocardiogram family first-degree relative gene gene amplification gene library gene mutation genetic association genetic screening genetic variability heart transplantation Holter monitoring human international normalized ratio lactate dehydrogenase blood level myofibrillary myopathy partial thromboplastin time potassium blood level protein blood level second-degree re
Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy. Material and methods. The object of the study: proband with non-compaction cardiomyopathy and his relatives of 1 and 2 degrees of kinship. All participants underwent clinical and instrumental examination including: blood collection for genetic testing, complete cell blood count, biochemical blood assay (levels of total protein, alanine-aminotransferase, aspartate aminotransferase, lactate dehydrogenase, bilirubin, urea, creatinine, uric acid, potassium, sodium, creatinekinase, MB-fraction of creatinekinase, brain natriuretic peptides, C-reactive protein), coagulation profile (partial thromboplastin time, thrombin clotting time, levels of antithrombin III, INR, D-dimer), ECG, Holter ECG monitoring, cardiac MRI). The non-compaction myocardium was diagnosed ac