Acute appendicitis in a patient with heterotaxy syndrome
Journal of Pediatric Surgery Case Reports, 2018 Heterotaxy syndrome, also known as situs ambiguous, is a congenital condition that results in an abnormal distribution of visceral organs in the chest and abdomen. Heterotaxy syndrome has generally been categorized into two forms: a left-atrial isomerism
Mariam Selevany +3 more
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Recovery of cyanosis after esophageal intubation in a neonate with tracheal agenesis: a case report
The Turkish Journal of Pediatrics, 2022 Background. Tracheal agenesis (TA) is a rare congenital defect that consists of a complete or partial absence of the trachea below the larynx, with or without tracheoesophageal fistula (TEF).
Hasan Tolga Çelik +7 more
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, 2019 Abstract This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of heterotaxy and disorders of situs, including polysplenia and asplenia. The relationship between heterotaxy and dysfunction of non-motile primary cilia is explained.
Rohit S. Loomba +2 more
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The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5 [PDF]
, 2016 G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart ...
Bauer, Ulrike M. M. +13 more
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Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome
Journal of Cardiovascular Development and Disease, 2023 Hypoplastic left heart syndrome (HLHS) is a complex congenital heart disease characterized by hypoplasia of left-sided heart structures. The developmental basis for restriction of defects to the left side of the heart in HLHS remains unexplained.
Hisato Yagi, Cecilia W. Lo
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Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School [PDF]
, 2018 Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity.
A Onoufriadis +35 more
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Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]
, 2020 Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel +25 more
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Appropriate Route Selection for Extracardiac Total Cavopulmonary Connection in Apicocaval Juxtaposition [PDF]
, 2012 BACKGROUND:A malpositioned heart with apicocaval juxtaposition may complicate the management of patients with functional single ventricles when total cavopulmonary connection is performed.
Abe Masakazu +9 more
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Novel use of covered stents to treat profound cyanosis in a hepatic vein exclusion Fontan
Annals of Pediatric Cardiology, 2019 Fontan completion in patients with complex cardiac anatomy, and specifically heterotaxy syndrome, can present unique physiologic considerations. For example, existing venous connections may be “unmasked” after a cavopulmonary anastomosis operation.
Sarosh P Batlivala, Makram R Ebeid
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Histopathological assessment of laterality defects in zebrafish development
Animal Cells and Systems, 2021 Laterality defects during embryonic development underlie the aetiology of various clinical symptoms of neuropathological and cardiovascular disorders; however, experimental approaches to understand the underlying mechanisms are limited due to the complex
Md. Ashraf Uddin Chowdhury +6 more
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