Introduction. Pathogenic variants of the FLNA gene cause damage to various organs and systems formed in the embryonic period. The most frequently affected organs are the brain (epilepsy), cardiovascular system (congenital heart defects, pulmonary hypertension — PH), and lungs (emphysema). The aim of the study: genetic, clinical, laboratory, and instrumental characteristics of patients with a disease caused by pathogenic variants of the FLNA gene. Materials and methods. Six girls with identified pathogenic variants of the FLNA gene were observed. The methods used: genealogical, whole exome sequencing, Sanger sequencing, electroencephalography, brain MRI, echocardiography, right heart catheterization with determination of pressure and resistance in the pulmonary circulation and pulmonary capillary wedge pressure, CT of the chest organs. Results. The article presents the results of a molecular genetic study of the FLNA gene. All patients were diagnosed with periventricular nodular heterotopia and psychomotor retardation, 2 of them had epilepsy; 4 children had heart valve dysplasia; 3 had patent ductus arteriosus, 3 had septal defects, 2 had bicuspid aortic valve, 5 had pulmonary hypertension; 5 had pulmonary emphysema; 1 had congenital diaphragmatic hernia. Two patients died during the observation period. Conclusion. Diagnosis and observation of patients with pathogenic variants of the FLNA gene is a challenge for a multidisciplinary team of doctors at a multidisciplinary pediatric hospital. The presented cohort of 6 patients reflects the most typical manifestations of this pathology, the severity and rate of development of disease in infants.
Miroshnichenko et al. (Wed,) studied this question.