Heterotaxy polysplenia syndrome in an adult female with complete endocardial cushion defect
Radiology Case Reports, 2021 Heterotaxy syndrome is a rare condition characterized by the abnormal arrangement of thoracoabdominal organs across the left-right axis of the body.It is generally classified as right and left atrial isomerism or asplenia and polysplenia syndrome, even ...
Habib Ahmad Esmat +2 more
doaj +1 more source
Clinical Case Reports, 2021 Heterotaxy syndrome is associated with asplenia/polysplenia and complex congenital heart disease. Facial palsy in heterotaxy is very rare. The management is still challenging with a poor prognosis. Proper counseling to the family about the disease course,
Sanjeev Kharel +6 more
doaj +1 more source
, 2018 Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of model organisms and gene expression during early development suggests ZIC3-related heterotaxy occurs due to defects at the earliest stage of left-right axis formation.
Bellchambers, Helen M. +1 more
openaire +2 more sources
Multisystem Phenotypic Spectrum in Pediatric Heterotaxy Syndrome: A Case Series. [PDF]
CureusMukherjee TG +2 more
europepmc +3 more sources
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport [PDF]
, 2017 DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193).
Adzhubei +87 more
core +9 more sources
Heterotaxy syndrome: This is the left, right?
South African Journal of Radiology, 2015 Heterotaxy syndrome is a rare and complex disorder of the chest and abdominal organ arrangements, and presents a diagnostic challenge to the radiologist.
Lili Huang +4 more
doaj +1 more source
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
, 2019 The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A +9 more
core +1 more source
Heterotaxy Syndrome with Polysplenia, Fused Adrenal Glands, and Diabetes Mellitus
Clinical Medicine Insights: Cardiology, 2022 Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart failure, diffuse irregular cardiac murmurs, and palpable, tender epigastric mass.
Abid M Sadiq, Adnan M Sadiq
doaj +1 more source
Inflammation, Active Fibroplasia, and End-stage Fibrosis in 172 Biliary Atresia Remnants Correlate Poorly With Age at Kasai Portoenterostomy, Visceral Heterotaxy, and Outcome [PDF]
, 2018 Published histologic studies of the hilar plate or entire biliary remnant at the time of Kasai portoenterostomy (KHPE) have not provided deep insight into the pathogenesis of biliary atresia, relation to age at surgery, prognosis or the basis for ...
Arva +32 more
core +1 more source
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability
Developmental Biology, 2023 Congenital heart disease (CHD) is the most common and lethal birth defect, affecting 1.3 million individuals worldwide. During early embryogenesis, errors in Left-Right (LR) patterning called Heterotaxy (Htx) can lead to severe CHD.
E. Deniz +11 more
semanticscholar +1 more source