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DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. [PDF]

open access: yesPLoS Genetics, 2016
Heterotaxy, a birth defect involving left-right patterning defects, and primary ciliary dyskinesia (PCD), a sinopulmonary disease with dyskinetic/immotile cilia in the airway are seemingly disparate diseases.
You Li   +20 more
doaj   +8 more sources

Heterotaxy syndrome: This is the left, right? [PDF]

open access: yesSouth 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   +2 more sources

Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort

open access: yesFrontiers in Genetics, 2022
Objectives: Some genetic causes of heterotaxy have been identified in a small number of heterotaxy familial cases or animal models. However, knowledge on the genetic causes of heterotaxy in the fetal population remains scarce.
Yi-Hua He, Xiaowei Liu, Jian-Cheng Han
exaly   +3 more sources

Cardiovascular Abnormalities Associated with Heterotaxy Syndrome: A Case Series

open access: yesJournal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2023
Heterotaxy syndromes result from the failure of normal lateralization, resulting in the abnormal arrangement of cardiothoracic and abdominal viscera. These are associated with a disproportionate morbidity and mortality rate, mandating early diagnosis ...
Shraddha Joshi   +3 more
doaj   +2 more sources

Systemic-to-pulmonary shunt and progression of atrioventricular valve regurgitation: A multicenter study identifying high-risk physiologyCentral MessagePerspective [PDF]

open access: yesJTCVS Open
Objective: To evaluate the progression of systemic atrioventricular valve regurgitation (sAVVR) after the insertion of a systemic-to-pulmonary artery (SP) shunt.
Akira Yamaguchi, MD   +7 more
doaj   +2 more sources

Ventricular Topology in Congenital Heart Defects Associated with Heterotaxy: Can We Find Patterns Reflecting the Syndrome-Specific Tendency for Visceral Symmetry? [PDF]

open access: yesJournal of Cardiovascular Development and Disease
Heterotaxy syndrome is characterized by a tendency for bilaterally symmetric arrangement (isomerism) of inner organs. It is frequently associated with complex congenital heart defects (CHDs).
Takhfif Othman   +4 more
doaj   +2 more sources

Heterotaxy syndrome and interrupted inferior vena cava (IVC) with azygos continuation [PDF]

open access: yesJournal of Kerman University of Medical Sciences, 2020
Heterotaxy syndrome or situs ambiguous is a rare congenital disease in which the pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures is not arranged in normal position.
Mohammad Amin Dolatkhah   +5 more
doaj   +1 more source

Heterotaxy polysplenia syndrome in an adult female with complete endocardial cushion defect

open access: yesRadiology 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

Heterotaxy syndrome with complex congenital heart disease, facial palsy, and asplenia: A rare newborn finding

open access: yesClinical 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

Clinical profile, prenatal detection and predictors of outcome of heterotaxy syndromes in Western Australia

open access: yesInternational Journal of Cardiology Congenital Heart Disease, 2023
Background: Heterotaxy syndromes encompass left and right atrial isomerism (LAI and RAI respectively) and are associated with variable cardiac and non-cardiac anomalies which greatly influence outcomes.
Bradley MacDonald   +4 more
doaj   +1 more source

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