Clinical and morphologic aspects of noncompact left ventricular cardiomyopathy in the pediatric patient: a clinical case report

Left ventricular noncompaction cardiomyopathy (LVNC) is a rare genetic cardiomyopathy. The disease has a wide range of clinical manifestations, from asymptomatic conditions to serious cardiovascular complications, making its diagnosis and treatment difficult. The aim of this study was to demonstrate the clinical and morphologic aspects of noncompact LVNC in a child and to analyze the current principles of diagnosis of this disease. We present a clinical case of LVNC (spongy) in a child aged 3 years 9 months. Postmortem examination of the child's body was performed in the Pathology Department of the MNPE “Regional Clinical Hospital of the Ivano-Frankivsk Regional Council”. Histological sections of the heart were stained with hematoxylin and eosin and Van Gieson's picrofuchsin. Microscopic examination and photography of samples were performed using an Olympus CX23 light-optical microscope with an LC30 digital CMOS camera and cell Sens Entry software. The presented clinical case allowed us to identify the main pathomorphologic criteria of LVNC: hypertrabecular "spongy" myocardium, hypertrophy of muscle fibers, pleomorphism of cardiac myocytes, endocardial fibrosis, and small-focal myocardial sclerosis. Despite the lack of standardized methods for diagnosing LVNC, ultrasound, echocardiography, magnetic resonance, and cardiac computed tomography are traditional and widely used. Genetic evaluation of cardiomyopathies is an important clinical priority. Genetic testing and phenotyping will allow appropriate treatment of specific LVNC targets, thereby improving survival, reducing morbidity, and improving quality of life. The research was carried out in accordance with the principles of the Declaration of Helsinki. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.