Objective: The aim of our study was to evaluate whether intracardiac echogenic foci (ICEFs) may be associated with increased risk for structural cardiac anomalies in the low-risk population.
Methods: During a 24-month period, 3,744 low-risk patients were prospectively screened for ICEFs by prenatal sonography. The study group was composed of 138 fetuses (3.7%) with ICEF. The control group was composed of 167 fetuses without ICEF. In all fetuses a complete echocardiographic evaluation was performed.
Results: Among the 138 fetuses in the study group, 108 (78%) ICEFs were found in the left ventricle, 25 (18%) were found in the right ventricle, and 5 (4%) were found to be bilateral. No statistically significant difference was found between the study and the control group regarding the presence of cardiac anomalies. Only 1 case (0.7%) of pulmonic stenosis was found in the study group, compared to 1 case (0.6%) of bicuspid aortic valve in the control group.
Conclusions: We conclude that ICEFs found in low-risk patients are not associated with a significant increase in the risk of cardiac anomalies.
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http://dx.doi.org/10.1159/000021009 | DOI Listing |
Pediatr Cardiol
January 2025
Department of Pediatric Cardiology and Pediatric Intensive Care, University Hospital of Munich, Ludwig Maximilians University München, 81377, Munich, Germany.
The EDUCATE study investigated the acute impact of energy drink (ED) consumption on heart rate variability (HRV) in children and adolescents, with a focus on how these stimulant-rich beverages influence cardiac autonomic function. Given the popularity of EDs among young people, this study assessed the immediate cardiovascular response to ED intake. This randomized, double-blind, placebo-controlled crossover trial involved 26 healthy participants aged 10-18 years.
View Article and Find Full Text PDFJ Community Genet
January 2025
Red Nacional de Anomalías Congénitas (RENAC), Instituto Nacional de Epidemiología, ANLIS Malbrán, Buenos Aires, Argentina.
Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low).
View Article and Find Full Text PDFSci Rep
January 2025
School of Engineering, The University of Manchester, Manchester, UK.
This study examines how heart rate (HR) affects hemodynamics in a South African infant with Coarctation of the Aorta. Computed tomography angiography segments aortic coarctation anatomy; Doppler echocardiography derives inlet flow waveforms. Simulations occur at 100, 120, and 160 beats per minute, representing reduced, resting, and elevated HR levels.
View Article and Find Full Text PDFJ Med Genet
January 2025
Developmental Biology and Cancer, UCL GOS Institute of Child Health, London, UK
In 1997, the published our paper on the spectrum of clinical features associated with interstitial chromosome 22q11 deletions. This copy number variation is associated with an extraordinary range of clinical features, which led initially to its association with several diagnostic labels. Since 1997 work on clinical and basic science aspects of the syndrome and the genes reduced to hemizygosity have provided a wealth of information pertaining to both best practice care and underlying biology.
View Article and Find Full Text PDFBackground: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.
Case: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles.
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