Characteristics of the structural and functional state of the cardiovascular system in carriers of the HFE gene mutations

Objectives. To characterize the state of the cardiovascular system in patients carrying the HFE gene mutations in the Russian Federation.
Materials and methods. An evaluation of 39 cases of HFE gene mutations confirmed by biochemical and genetic methods was carried out.
Results. When analyzing the medical records of 39 patients with HFE gene mutations, changes in the structural and functional state of the cardiovascular system were detected in 20 (51.3%) patients. There was a history of arterial hypertension in 11 (28.21%) patients. Acute cerebrovascular accident was indicated in the anamnesis in 2 (5.13%) patients. A history of myocardial infarction was detected in 3 (7.69%) patients. Heart failure of non-ischemic genesis was diagnosed in 5 (12.82%) patients. In 14 (35.9%) patients in the form of atrioventricular block, left bundle branch block, right bundle branch block, intraventricular conduction disturbances, shortening of the PQ interval and prolongation of the QT interval, in 1 (2.56%) patient a paroxysmal form of atrial fibrillation was noted.
Conclusion. Half patients with HFE gene mutations had various changes in the cardiovascular system. In this regard, patients with cardiac pathology of unclear etiology require screening for timely diagnosis of hemochromatosis and joint management of patients with confirmed hemochromatosis by hematologists, cardiologists and hepatologists to prevent cardiovascular complications.

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