Results 31 to 40 of about 1,338 (153)

Heterotaxy syndrome with left atrial isomerism and polysplenia is a unique entity: a case report

open access: yesEgyptian Journal of Chest Disease and Tuberculosis, 2021
A state of a patient with heterotaxy syndrome with polysplenia was indiscriminately diagnosed through visualized estimation (computed tomography and pelviabdominal ultrasound) regardless of the pathological state.
Rana El-Helbawy   +2 more
doaj   +1 more source

Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome

open access: yesRevista Portuguesa de Cardiologia, 2015
Polysplenia/heterotaxy syndrome is a rare congenital disorder associated with a wide spectrum of anomalies in various organ systems. Although anomalies of the cardiovascular system are common in this syndrome, the authors report a rare case of ...
Ricardo Duarte, Humberto Morais
doaj   +1 more source

BILIARY ATRESIA IS ASSOCIATED WITH POLYSPLENIA AND SITUS INVERSUS ON ULTRASOUND, A CASE REPORT STUDY.

open access: yesStudent's Journal of Health Research Africa, 2023
Biliary atresia is a destructive, idiopathic, and inflammatory cholangiopathy that affects intra and extra-hepatic bile ducts leading to fibrosis and obliteration of the biliary tract and development of liver cirrhosis.
Evalyne Tukwasibwe   +3 more
doaj   +1 more source

Anomalies of Abdominal Organs in Polysplenia Syndrome: Multidetector Computed Tomography Findings

open access: yes대한영상의학회지, 2016
Polysplenia syndrome is a rare situs ambiguous anomaly associated with multiple spleens and anomalies of abdominal organs. Because most of the minor anomalies do not cause clinical symptoms, polysplenia syndrome is detected incidentally in the adults ...
Sungwon Kim, Yong Seok Lee, Jin-Hee Jung
doaj   +1 more source

Clinical implications of congenital interruption of inferior vena cava

open access: yesJournal of the Formosan Medical Association, 2022
Background/purpose: Inferior vena cava (IVC) interruption is rare and can be detected through prenatal or postnatal imaging. It usually occurs in patients with heterotaxy syndrome with bilateral left-sidedness (left isomerism or polysplenia syndrome ...
Shyh-Jye Chen, Mei-Hwan Wu, Jou-Kou Wang
doaj   +1 more source

Heterotaxy Syndrome with Polysplenia, Fused Adrenal Glands, and Diabetes Mellitus

open access: yesClinical 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

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 and Genetic Study of a Pseudo‐Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1‐Associated Family Reported in Chinese Population

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We report pseudo‐dominant PCD inheritance in a Chinese family due to novel DNAAF1 mutations. Affected members across two generations showed significant variability in lung disease progression and visceral arrangement. ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal ...
Zhuoyao Guo   +3 more
wiley   +1 more source

Current Topics of Progressive Cardiac Conduction Disease

open access: yesJournal of Arrhythmia, Volume 42, Issue 3, June 2026.
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo   +7 more
wiley   +1 more source

Unusual, unexpected course of temporary pacing lead leading to diagnosis of a rare syndrome

open access: yesIHJ Cardiovascular Case Reports, 2019
We describe a case of an elderly female with complete heart block where temporary pacemaker insertion led to diagnosis of inferior vena cava interruption, leading further to diagnosis of polysplenia syndrome.
M.P. Girish   +4 more
doaj   +1 more source

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