ABSTRACT
INTRODUCTION: CHD is a unique group of medical pathologies. Literature worldwide reports significant decrements in the case volume of patients with these conditions due to the recent global pandemic of coronavirus disease 2019. The only centre providing congenital cardiac care for Lithuanian population is in a hospital which was the main medical institution for the sickest coronavirus disease 2019 patients. Hence, this centre had to maintain its service alongside the mobilisation of resources to tackle the crisis. AIM OF STUDY: To evaluate the effect of the pandemic on the service of congenital heart surgery in Lithuania. METHODS: The activity of a single centre providing congenital heart care working in a main coronavirus 2019 pandemic hospital during the pandemic was analysed and compared to a matched period of pre-pandemic activity. RESULTS: The number of admitted patients was similar during both pre-pandemic and pandemic periods. During the pandemic period, younger patients were more often operated as urgent cases. Their postoperative length of stay was longer. However, there were no differences in early postoperative mortality between the two groups. CONCLUSIONS: It was possible to maintain an accessible and high-quality specialised congenital cardiac care for various age patients during global pandemic events, while working in the main pandemic hospital.
ABSTRACT
BACKGROUND: Marfan syndrome is a genetic connective tissue disorder affecting skeletal, ocular, and cardiovascular organ systems. Previous research found that pathogenic variants clustered in exons 24-32 of fibrillin-1 (FBN1) gene result in more severe clinical phenotypes. Furthermore, genotype-phenotype correlation studies suggested that more severe cardiovascular phenotypes were related to variants held responsible for haploinsufficiency. Our objective was to analyze the differences in clinical manifestations and genotypes of individuals with early-onset Marfan syndrome and to assess their impact on management strategies. METHODS: We analyzed clinical and genetic data of a new patient with early-onset Marfan syndrome together with 51 previously reported ones in the PubMed database between 1991 and 2022. RESULTS: Analysis showed 94% (49/52) of pathogenic variants clustered in exons 24-32 of the FBN1. The most common skeletal features were arachnodactyly (98%), reduced elbow extension (48%), pectus deformity (40%), and scoliosis (39%). Haploinsufficiency variants were reported as having poor outcome in 87.5% of the cases. Among patients carrying variants that substitute a cysteine for another amino acid and those that do not change cysteine content, cardiac intervention was found to be associated with a better outcome (p = 0.035 vs. p = 0.002). Variants that create an extra cysteine residue were found to be associated with a higher risk of ectopia lentis. Additionally, children up to 36-months-old were more often reported as still alive at the time of publication compared to newborns (p < 0.01). CONCLUSIONS: Our findings have implications for prognosis, because different genotype groups and their resulting phenotype may require personalized care and management.
Subject(s)
Marfan Syndrome , Child , Humans , Infant, Newborn , Child, Preschool , Marfan Syndrome/diagnosis , Marfan Syndrome/genetics , Marfan Syndrome/complications , Fibrillins/genetics , Cysteine/genetics , Mutation , Genotype , Phenotype , PrognosisABSTRACT
Diagnostic and treatment challenges of congenital complete atrioventricular block in two premature newborn babies are presented. Timely recognition of this fetal condition, appropriate antenatal care, and treatment at a tertiary level care hospital as well as prompt postnatal management of the newborn baby are the key factors for good outcome. Prematurity is also associated with an additional risk of poor outcome and complications.
