Acute myocardial infarction during pregnancy is a  threatening complication with high maternal and perinatal mortality. According to the literature, hereditary thrombophilia is commonly associated with obstetric disorders and susceptibility to venous thrombosis, whereas arterial part of the vasculature, including coronary, is rarely involved. The article describes two clinical cases of pregnant women with acute myocardial infarction and post-infarction cardiosclerosis, in whom hereditary thrombophilia, associated with the gene PAI-1-675 polymorphism, was diagnosed. Mothers of both patients had suffered myocardial infarction at a young age, while past history of only one pregnant woman was remarkable for multiple perinatal losses. Myocardial infarction may manifest with intense headache mirroring systemic angiospasm. Based on the clinical observations of acute myocardial infarction in pregnancy, one could conclude that measurements of troponin levels that might be false negative should be done repeatedly, while the signs of transmural myocardial injury at ECG can evolve into those of an intramural myocardial infarction. Miscarriage and fetoplacental insufficiency have been found in the patients with combination of hereditary thrombophilia and myocardial injury. Coronary artery damage in pregnant women can be the result of hereditary thrombophilia, most often associated with the PAI-1-675 gene polymorphism, as well as its combination with the heterozygous state of other genes. The absence of past perinatal losses and venous thromboembolism in pregnant women with myocardial infarction does not exclude hereditary thrombophilia, and additional work-up of the patient and the proband family is mandatory to exclude the underlying pathology. The course of myocardial infarction may not require an intracoronary intervention, and treatment may consist of non-fractionated or low molecular weight heparin and calcium antagonists.

Шугинин Игорь Олегович-д-р мед. наук, вед. науч. сотр. акушерского обсервационного отделения 1 Новикова Светлана Викторовна-д-р мед. наук, руководитель акушерского обсервационного отделения 1 Упрямова Екатерина Юрьевна-мл. науч. сотр. отделения анестезиологии и интенсивной терапии 1 Бочарова Ирина Ивановна-д-р мед. наук, вед. науч. сотр. отделения неонатологии 1 Жученко Людмила Александровна-д-р мед. наук, профессор, зав. медико-генетическим отделением 1 Рис. 2. Треугольная форма черепа, голубой цвет склер у пациентки с несовершенным остеогенезом Рис. 3. Внутриутробный перелом левого бедра у ребенка от пациентки с несовершенным остеогенезом

No abstract

Муковисцидоз (кистозный фиброз) -одно из самых часто встречающихся в европейской популяции моногенных заболеваний. Рассмотрены возможности современных репродуктивных технологий для предотвращения наследования гена муковисцидоза детьми пациентов с разными видами носительства моногенного заболевания.

No abstract