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Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFArtificial Intelligence in Fetal and Pediatric Echocardiography.
Children (Basel)
December 2024
Division of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Echocardiography is the main modality in diagnosing acquired and congenital heart disease (CHD) in fetal and pediatric patients. However, operator variability, complex image interpretation, and lack of experienced sonographers and cardiologists in certain regions are the main limitations existing in fetal and pediatric echocardiography. Advances in artificial intelligence (AI), including machine learning (ML) and deep learning (DL), offer significant potential to overcome these challenges by automating image acquisition, image segmentation, CHD detection, and measurements.
View Article and Find Full Text PDFAt mid gestation, markers of placental function rather than maternal cardiac function are stronger determinants of birthweight.
Am J Obstet Gynecol
January 2025
Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King's College Hospital, London, UK; School of Biomedical Engineering and Imaging Sciences, King's College London, London, UK.
Background: The role of maternal cardiac and hemodynamic assessment during normal and complicated pregnancies has gained attention during the last few years. Some researchers suggested that the manifestation of complications in pregnancy suffering from impaired placentation is mainly driven by pre-existing cardiac changes, identifiable at an early stage by echocardiographic and hemodynamic assessment. It is therefore of great importance to determine the link between placental perfusion and maternal cardiac function and hemodynamics.
View Article and Find Full Text PDFEchocardiography parameters and cardiac geometry in pregnancy by race and ethnicity.
Obstet Med
January 2025
Department of Medicine, Division of Cardiovascular Medicine, University of Massachusetts Chan School of Medicine, Worcester, MA, USA.
Objectives: The objective of this study was to assess transthoracic echocardiography (TTE) parameters in pregnancy by race and ethnicity.
Methods: We performed a retrospective cohort study of pregnant individuals without cardiovascular disease who underwent a perinatal TTE between October 2017 and May 2022. Demographics and echocardiographic parameters were compared by race/ethnicity.
Multimodal imaging of a rare left ventricular myxoma mimicking a pericardial tumor.
Eur Heart J Cardiovasc Imaging
January 2025
Department of Ultrasound, Affiliated Hospital of Inner Mongolia Medical University, No. 1, Tongdaobeijie, Huimin District, Hohhot, 010050, China.
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