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
doaj +1 more source
Noncompaction cardiomyopathy and heterotaxy syndrome [PDF]
, 2017 Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD).
Martinez, Hugo R. +3 more
core +1 more source
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
doaj +1 more source
Tracheostomy Following Surgery for Congenital Heart Disease: 14-year Institutional Experience [PDF]
, 2016 Background: Tracheostomy following congenital heart disease (CHD) surgery is a rare event and associated with significant mortality. Hospital survival has been reported from 20% to 40%.
Ackerman, Veda +6 more
core +1 more source
Heterotaxy Syndrome: Discordant Growth [PDF]
Cureus, 2021 Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms.
Yadav, Pratiksha +3 more
openaire +2 more sources
Novel dominant-negative FOXJ1 mutation in a family with heterotaxy plus mouse model
Translational Pediatrics, 2023 Background Primary ciliary dyskinesia (PCD) is a clinically heterogeneous group of autosomal or, less frequently, X-chromosomal recessive inheritance syndrome of motile cilia dysfunction characterized by neonatal respiratory distress, oto-sino-pulmonary ...
L. Li +9 more
semanticscholar +1 more source
Outcome of prenatally diagnosed fetal heterotaxy: A systematic review and meta-analysis. [PDF]
, 2017 OBJECTIVES: To assess the perinatal outcomes of fetuses affected by heterotaxy. METHODS: Medline, Embase and Cinhal were searched. Only studies reporting a prenatal diagnosis of isomerism were included.
Abuhamad +51 more
core +1 more source
A multi-disciplinary, comprehensive approach to management of children with heterotaxy
Orphanet Journal of Rare Diseases, 2022 Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left–right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left–right organizer early in embryogenesis ...
Thomas G. Saba +13 more
semanticscholar +1 more source
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
doaj +1 more source
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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