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Genetic aspects of congenital heart disease in heterotaxy syndrome
Nur Nabihah Ahmad Rafie +6 more
openalex +2 more sources
Heterotaxy polysplenia syndrome in an adult female with complete endocardial cushion defect
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
Heterotaxy is a rare syndrome associated with cardiac complexity, anatomic variability and high morbidity and mortality. It is often challenging to visualize and provide an accurate diagnosis of the cardiac anatomy prior to surgery with the use of ...
Lauren Gabriel Betancourt +4 more
doaj +1 more source
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
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
Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R +3 more
core +2 more sources
Background The “heterotaxy syndrome” also called “situs ambiguus” is a rare condition in which the internal organs of the chest and abdomen are abnormally arranged.
Mahrukh Ali +4 more
doaj +1 more source
Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M +33 more
core +2 more sources
Acute appendicitis in a patient with heterotaxy syndrome
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
Inflammation, Active Fibroplasia, and End-stage Fibrosis in 172 Biliary Atresia Remnants Correlate Poorly With Age at Kasai Portoenterostomy, Visceral Heterotaxy, and Outcome [PDF]
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

