Dynamic observation of nine pediatric patients with Barth syndrome

Barth syndrome (BS) is an orphan disease whose variability of clinical manifestations does not always allow its timely diagnosis, which in its turn reduces the quality of medical care and worsens the prognosis for outcomes. Currently there are some scientific publications in Russia on isolated cases of the disease and none of a kind dedicated to the long-term observation of patients with assessment of the clinical picture. The purpose of this research was to analyze the dynamics of clinical manifestations in children with BS. Materials and methods used: a cohort study included observation of 9 boys with BS in 2015-2022. Results: all patients with genetically confirmed BS were diagnosed with cardiomyopathy with non-compact myocardium, while a dilated remodeling phenotype was noted in 78% of cases. In 67% of children, against the background of complex drug therapy, a decrease in the size of the left ventricle with an increase in ejection fraction was recorded. Neutropenia was detected in 89% of patients, requiring the use of granulocyte colony-stimulating factor in two cases. Frequent detection of prolongation of the QT interval (78%) and ECG patterns simulating the phenomenon of pre-excitation against the background of intraventricular conduction disturbances, acceleration of AV conduction, secondary disturbances of repolarization processes (44%) without fixation of ventricular arrhythmias were noted. The severity of the condition was determined by a combination of severe heart failure, conduction disturbances and clinically significant neutropenia. Fatal outcomes were recorded in 2 children (22%) at the age of 8 months old and 3.5 years old against the background of progressive heart failure and sudden death, respectively. Conclusion: a comprehensive multidisciplinary approach and early diagnosis of BS have an impact on the outcome of the disease.