Dilated cardiomyopathy is a common cause of heart failure and the most common pathology in patients referred for heart transplantation. In childhood, difficulties arise in the differential diagnosis of various types of cardiomyopathies due to the lack of research methods such as cardiac magnetic resonance imaging, endomyocardial biopsy, and molecular genetic analysis in the routine practice of a doctor. In this regard, the pediatrician and pediatric cardiologist need to pay special attention to the clinical symptoms of heart failure, which are often disguised as anatomical and physiological characteristics in young children, and also be able to interpret and analyze the results of additional examination: hypertrophy of the atria and ventricles of the heart, signs of stress , disturbance of repolarization processes according to electrocardiography, determine cardiomegaly and disturbances of blood flow in the lungs according to X-ray examination, and also understand the significance of key parameters of transthoracic echocardiography. Early diagnosis of cardiomyopathies in children is extremely important, since all myocardial diseases can be associated with sudden cardiac death syndrome. The incidence of sudden death in children with dilated cardiomyopathy varies from 1.5 to 4%; in most cases, the cause of death is life-threatening cardiac arrhythmias, which also require early identification. Timely diagnosis and comprehensive treatment can improve the prognosis and quality of life of children with this pathology. In the article, we present a clinical case of difficulty in diagnosing dilated cardiomyopathy in combination with thrombophilia in a young child; later detection of the concomitant pathology led to complications such as left ventricular thrombosis and severe systolic dysfunction, which subsequently required serious and long-term anticoagulant and cardioprotective therapy.
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Kauk et al. (2024) studied this question.
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