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| Sousa,M.G.; Gerardi,D.G.; Alves,R.O.; Camacho,A.A.. |
| Two cases of tricuspid valve dysplasia are reported. Dogs were presented for evaluation of weakness and ascites. In both cases, echocardiography disclosed tricuspid insufficiency and, in one of them, tricuspid leaflets also were displaced down into the right ventricle, substantiating Ebstein's anomaly. Medical therapy for congestive heart failure was initiated. One of the dogs suddenly died shortly after diagnosis was established. Although the other dog recovered much better initially, sudden death also occurred. Post-mortem examinations showed right atrioventricular enlargement, and thickened tricuspid leaflets. Clinical features, diagnostic methods and medical therapy are discussed in this paper. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Congenital heart disease; Echocardiography; Atrioventricular valve malformation. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352006000500010 |
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| CALDERÓN,JUAN FRANCISCO; PUGA,ALONSO R; GUZMÁN,M. LUISA; ASTETE,CARMEN PAZ; ARRIAZA,MARTA; ARACENA,MARIANA; ARAVENA,TERESA; SANZ,PATRICIA; REPETTO,GABRIELA M. |
| Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for the vascular endothelial growth factor A, have been associated with non-syndromic congenital heart disease, as well as with the presence of cardiovascular anomalies in patients with microdeletion 22q11. We evaluated the association of VEGFA polymorphisms c.-2578C>A (rs699947), c.-1154G>A (rs1570360) and c.-634C>G (rs2010963) with congenital heart disease in... |
| Tipo: Journal article |
Palavras-chave: Congenital heart disease; DiGeorge syndrome; Genetic modifiers; VEGFA; Velocardiofacial syndrome. |
| Ano: 2009 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007 |
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| Zhou,X.L.; Liu,J.C.. |
| Notch signaling is an evolutionarily ancient, highly conserved pathway important for deciding cell fate, cellular development, differentiation, proliferation, apoptosis, adhesion, and epithelial-to-mesenchymal transition. Notch signaling is also critical in mammalian cardiogenesis, as mutations in this signaling pathway are linked to human congenital heart disease. Furthermore, Notch signaling can repair myocardial injury by promoting myocardial regeneration, protecting ischemic myocardium, inducing angiogenesis, and negatively regulating cardiac fibroblast-myofibroblast transformation. This review provides an update on the known roles of Notch signaling in the mammalian heart. The goal is to assist in developing strategies to influence Notch signaling and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Notch signaling; Congenital heart disease; Myocardial regeneration; Cardioprotection; Angiogenesis; Cardiac fibroblast-myofibroblast transformation. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000100001 |
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| Lopes,A.A.; Barreto,A.C.; Maeda,N.Y.; Cícero,C.; Soares,R.P.S.; Bydlowski,S.P.; Rich,S.. |
| Biomarkers have been identified for pulmonary arterial hypertension, but are less well defined for specific etiologies such as congenital heart disease-associated pulmonary arterial hypertension (CHDPAH). We measured plasma levels of eight microvascular dysfunction markers in CHDPAH, and tested for associations with survival. A cohort of 46 inoperable CHDPAH patients (age 15.0 to 60.2 years, median 33.5 years, female:male 29:17) was prospectively followed for 0.7 to 4.0 years (median 3.6 years). Plasma levels of von Willebrand factor antigen (VWF:Ag), tissue plasminogen activator (t-PA) and its inhibitor (PAI-1), P-selectin, reactive C-protein, tumor necrosis factor alpha, and interleukin-6 and -10 were measured at baseline, and at 30, 90, and 180 days in... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Pulmonary hypertension; Congenital heart disease; Eisenmenger syndrome; Endothelial dysfunction; Von Willebrand factor; Th2 cytokine response. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011001200011 |
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| Porto,Marianna P.R.; Vergani,Naja; Carvalho,Antonio Carlos C.; Cernach,Mirlene C.S.P.; Brunoni,Decio; Perez,Ana Beatriz A.. |
| The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for mutations, by direct sequencing, in 32 unrelated patients presenting classical (8) or atypical HOS (1), isolated congenital heart defects (16) or isolated upper-limb malformations (7). Pathogenic mutations in the TBX5 gene were found in four HOS patients, including two new mutations (c.374delG; c.678G > T) in typical patients, and the hotspot mutation c.835C > T in two patients, one of them with... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Holt-Oram syndrome; Congenital heart disease; TBX5 gene; GATA gene; NKX2.5 gene; Mutation analysis. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200006 |
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