Genetic and Developmental Basis of Cardiovascular Malformations [PDF]
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs ...
Azhar, Mohamad, Ware, Stephanie M.
core +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
doaj +1 more source
Background: Heterotaxy syndrome associated with functional single ventricle and extracardiac total anomalous pulmonary venous connection (TAPVC) is characterized by high operative risks and has high mortality rate.
Minori Tateishi, Masaaki Koide
doaj +1 more source
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies [PDF]
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Abete +150 more
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Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence:two case reports and a review of the literature [PDF]
Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions.
Bjørsum-Meyer, T. +3 more
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Novel use of covered stents to treat profound cyanosis in a hepatic vein exclusion Fontan
Fontan completion in patients with complex cardiac anatomy, and specifically heterotaxy syndrome, can present unique physiologic considerations. For example, existing venous connections may be “unmasked” after a cavopulmonary anastomosis operation.
Sarosh P Batlivala, Makram R Ebeid
doaj +1 more source
Polysplenia is heterotaxy syndrome or bilateral left‐sidedness. We report a case of polysplenia syndrome in order to draw attention to this rare syndrome that must be excluded in an infant presenting with congenital heart disease and intestinal ...
Roya Arif Huseynova +4 more
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Splenic Infarct with Polysplenia Syndrome
A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed multiple spleens in the left abdomen and one of the spleen showing low attenuation areas ...
Qin Ling Zhu, Wenjun Zhu
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Appropriate Route Selection for Extracardiac Total Cavopulmonary Connection in Apicocaval Juxtaposition [PDF]
BACKGROUND:A malpositioned heart with apicocaval juxtaposition may complicate the management of patients with functional single ventricles when total cavopulmonary connection is performed.
Abe Masakazu +9 more
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This study reveals a pivotal epigenetic regulatory role for the histone acetyltransferase p300, demonstrating that its acetylation of histone 3 at lysine 18 and 27 (H3K18ac and H3K27ac), alongside the formation of the p300/BRD4/SP1 complex, drives AR activation and ovarian fibrosis in PCOS.
Zhengquan Zhu +11 more
wiley +1 more source

