Genetic and Developmental Basis of Cardiovascular Malformations [PDF]
, 2016 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.
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Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]
, 2020 Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel +25 more
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Heterotaxy Syndrome and Spectrum of Cardiac Involvement
Journal of the Indian Academy of Echocardiography & Cardiovascular ImagingHeterotaxy syndrome, a birth defect characterized by abnormal arrangement of organs, is strongly associated with complex congenital heart disease (CHD).
Munesh Tomar, Maitri Chaudhuri
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Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies [PDF]
, 2017 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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Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome
Revista 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
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The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5 [PDF]
, 2016 G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart ...
Bauer, Ulrike M. M. +13 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]
, 2016 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
Annals of Pediatric Cardiology, 2019 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
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Clinical Case Reports, 2020 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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Tokyo Women's Medical University Journal, 2023 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
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