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1.
Int J Cardiovasc Imaging ; 28(8): 2091-8, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22318541

RESUMO

Accurate assessment of aortic annular dimensions is essential for successful transcatheter aortic valve implantation (TAVI). Annular dimensions are conventionally measured in mid-systole by multidetector computed tomography (MDCT), echocardiography and angiography. Significant differences in systolic and diastolic aortic annular dimensions have been demonstrated in cohorts without aortic stenosis (AS), but it is unknown whether similar dynamic variation in annular dimensions exists in patients with severe calcific AS in whom aortic compliance is likely to be substantially reduced. We investigated the variation in aortic annular dimensions between systole and diastole in patients with severe calcific AS. Patients with severe calcific AS referred for TAVI were evaluated by 128-slice MDCT. Aortic annular diameter was measured during diastole and systole in the modified coronal, modified sagittal, and basal ring planes (maximal, minimal and mean diameters). Differences between systole and diastole were analysed by paired t test. Fifty-nine patients were included in the analysis. Three of the five aortic dimensions measured increased significantly during systole. The largest change was a 0.75 mm (3.4%) mean increase in the minimal diameter of the basal ring during systole (p = 0.004). This corresponds closely to the modified sagittal view, which also increased by mean 0.42 mm (1.9%) during systole (p = 0.008). There was no significant change in the maximal diameter of the basal ring or the modified coronal view during systole (p > 0.05). There is a small magnitude but statistically significant difference in aortic annulus dimensions of patients with severe AS referred for TAVI when measured in diastole and systole. This small difference is unlikely to alter clinical decisions regarding prosthesis size or suitability for TAVI.


Assuntos
Estenose da Valva Aórtica/terapia , Valva Aórtica/diagnóstico por imagem , Calcinose/terapia , Cateterismo Cardíaco , Diástole , Implante de Prótese de Valva Cardíaca/métodos , Tomografia Computadorizada Multidetectores , Sístole , Idoso , Idoso de 80 Anos ou mais , Valva Aórtica/patologia , Valva Aórtica/fisiopatologia , Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/fisiopatologia , Calcinose/diagnóstico por imagem , Calcinose/fisiopatologia , Cateterismo Cardíaco/instrumentação , Feminino , Próteses Valvulares Cardíacas , Implante de Prótese de Valva Cardíaca/instrumentação , Humanos , Masculino , Seleção de Pacientes , Valor Preditivo dos Testes , Desenho de Prótese , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
2.
BMC Med Genet ; 10: 135, 2009 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-20003416

RESUMO

BACKGROUND: Blood pressure (BP) has significant heritability, but the genes responsible remain largely unknown. Single nucleotide polymorphisms (SNPs) at the STK39 locus were recently associated with hypertension by genome-wide association in an Amish population; in vitro data from transient transfection experiments using reporter constructs suggested that altered STK39 expression might mediate the effect. However, other large studies have not implicated STK39 in hypertension. We determined whether reported SNPs influenced STK39 expression in vivo, or were associated with BP in a large British Caucasian cohort. METHODS: 1372 members of 247 Caucasian families ascertained through a hypertensive proband were genotyped for reported risk variants in STK39 (rs6749447, rs3754777, rs35929607) using Sequenom technology. MERLIN software was used for family-based association testing. Cis-acting influences on expression were assessed in vivo using allelic expression ratios in cDNA from peripheral blood cells in 35 South African individuals heterozygous for a transcribed SNP in STK39 (rs1061471) and quantified by mass spectrometry (Sequenom). RESULTS: No significant association was seen between the SNPs tested and systolic or diastolic BP in clinic or ambulatory measurements (all p > 0.05). The tested SNPs were all associated with allelic expression differences in peripheral blood cells (p < 0.05), with the most significant association for the intronic SNP rs6749447 (P = 9.9 x 10-4). In individuals who were heterozygous for this SNP, on average the G allele showed 13% overexpression compared to the T allele. CONCLUSIONS: STK39 expression is modified by polymorphisms acting in cis and the typed SNPs are associated with allelic expression of this gene, but there is no evidence for an association with BP in a British Caucasian cohort.


Assuntos
Pressão Sanguínea/genética , Regulação da Expressão Gênica no Desenvolvimento , Hipertensão/genética , Polimorfismo de Nucleotídeo Único , Proteínas Serina-Treonina Quinases/genética , Adulto , Alelos , Feminino , Frequência do Gene , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Hipertensão/fisiopatologia , Masculino , Pessoa de Meia-Idade , Reino Unido , População Branca/genética
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