Results 31 to 40 of about 1,338 (153)
Heterotaxy syndrome with left atrial isomerism and polysplenia is a unique entity: a case report
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
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
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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
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Anomalies of Abdominal Organs in Polysplenia Syndrome: Multidetector Computed Tomography Findings
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
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Clinical implications of congenital interruption of inferior vena cava
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
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Heterotaxy Syndrome with Polysplenia, Fused Adrenal Glands, and Diabetes Mellitus
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
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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
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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
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
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

