Stress-induced cardiomyopathy (takotsubo syndrome) in a patient with primary hemochromatosis

Hemochromatosis is a disease associated with excess iron in the body. Primary (hereditary) hemochromatosis, occurs due to mutations in genes encoding iron metabolism proteins. Elevated serum iron concentrations can lead to iron accumulation in parenchymatous organs and tissues, especially in the liver, pancreas, heart, pituitary gland, and testicles, resulting in the development of fibrosis and failure of these organs. Diagnosis of hereditary hemochromatosis includes genetic testing, evaluation of serum iron metabolism parameters, and imaging data. The article describes a case of Takotsubo syndrome development in a patient with primary hemochromatosis. Takotsubo syndrome is characterized by transient regional systolic dysfunction, dilation and edema of the apical and/or middle segments of the left ventricle (LV), in the absence of coronary artery obstruction during coronary angiography. At the age of 49, an examination revealed an increase in ferritin, genetic testing revealed a homozygous mutation C282Y in the HFE gene, hereditary hemochromatosis was diagnosed, erythrocytapheresis was performed, and she is being monitored by a hematologist. At the age of 56, she was hospitalized with suspected acute coronary syndrome with ST segment elevation, an increase in troponin I levels to 1.8 ng/ml. Coronary angiography did not reveal any hemodynamically significant stenosis. Echocardiography revealed hypoand dyskinesis of the apical segments, a decrease in the LV ejection fraction to 45%. Dynamically, normalization of the troponin level, ECG, and restoration of LV function were noted. Takotsubo syndrome was diagnosed in a patient with primary hemochromatosis, the combination of which was not mentioned in previously published works.

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