Dilated cardiomyopathy and left ventricular non-compaction in a patient with Alport syndrome [ДИЛАТАЦИОННАЯ КАРДИОМИОПАТИЯ И СИНДРОМ НЕКОМПАКТНОГО...
Сурикова Y. А., Балкарова О. В., Поляк М. Е., Поволоцкайа И. С., Kaymonov V. S., Благова О. В., Мершина Е. А., Заклязьминская Е. В.
Клиническая и экспериментальная хирургия. Журнал имени академика Б.В. Петровского
Т. 7, Вып. 1, С. 17-22
Опубликовано: 2019
Тип ресурса: Статья
DOI:10.24411/2308-1198-2019-11002
Аннотация:
Alport syndrome is a hereditary multisystem disorder with kidneys, hearing and eyes involvements. About 80[%] of cases are X-linked, due to mutations in the COL4A5 gene (MIM: #301050), with more severe manifestations in men. Cardiovascular manifestation in Alport syndrome includes mainly mitral valve dysplasia and prolapse, and aortic dilation and spontaneous dissection of the coronary arteries; cases of structural and functional cardiac remodeling (cardiomyopathy) are extremely rare. In this paper, we present a clinical case of a young patient with a combination of Alport syndrome, left ventricular non-compaction, and progressive dilated cardiomyopathy that had required consecutive heart and kidney transplantation. To clarify the risk of the disease transmission and the prospects for prenatal DNA-diagnostics, an extended genetic testing was performed. However even the identification of known mutation is not always make the prognosis for the offspring completely clear. © 2019 GEOTAR Medi
Ключевые слова:
Alport syndrome; COL4A5; Dilated cardiomyopathy; Genetic counseling; Left ventricular non-compaction
Язык текста: Русский
ISSN: 2308-1198
Сурикова Y. А. Ю.А.
Балкарова О. В.
Поляк М. Е.
Поволоцкайа И. С.
Kaymonov V. S.
Благова О. В. Ольга Владимировна 1974-
Мершина Е. А.
Заклязьминская Е. В. Елена Валерьевна 1971-
Surikova Y. A. Yu.A.
Balkarova O. V.
Polyak M. E.
Povolotskaya I. S.
Каyмонов В. С.
Blagova O. V. Ol`ga Vladimirovna 1974-
Mershina E. A.
Zaklyaz`minskaya E. V. Elena Valeryevna 1971-
Dilated cardiomyopathy and left ventricular non-compaction in a patient with Alport syndrome [ДИЛАТАЦИОННАЯ КАРДИОМИОПАТИЯ И СИНДРОМ НЕКОМПАКТНОГО МИОКАРДА ЛЕВОГО ЖЕЛУДОЧКА У ПАЦИЕНТА С СИНДРОМОМ АЛЬПОРТА]
Dilated cardiomyopathy and left ventricular non-compaction in a patient with Alport syndrome [ДИЛАТАЦИОННАЯ КАРДИОМИОПАТИЯ И СИНДРОМ НЕКОМПАКТНОГО...
Текст визуальный непосредственный
Клиническая и экспериментальная хирургия. Журнал имени академика Б.В. Петровского
Издательская группа "ГЭОТАР-Медиа"
Т. 7, Вып. 1 С. 17-22
2019
Статья
Alport syndrome COL4A5 Dilated cardiomyopathy Genetic counseling Left ventricular non-compaction
Alport syndrome is a hereditary multisystem disorder with kidneys, hearing and eyes involvements. About 80[%] of cases are X-linked, due to mutations in the COL4A5 gene (MIM: #301050), with more severe manifestations in men. Cardiovascular manifestation in Alport syndrome includes mainly mitral valve dysplasia and prolapse, and aortic dilation and spontaneous dissection of the coronary arteries; cases of structural and functional cardiac remodeling (cardiomyopathy) are extremely rare. In this paper, we present a clinical case of a young patient with a combination of Alport syndrome, left ventricular non-compaction, and progressive dilated cardiomyopathy that had required consecutive heart and kidney transplantation. To clarify the risk of the disease transmission and the prospects for prenatal DNA-diagnostics, an extended genetic testing was performed. However even the identification of known mutation is not always make the prognosis for the offspring completely clear. © 2019 GEOTAR Medi