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SCardP - Artigos publicados em revistas indexadas na Medline/Pubmed

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Browsing SCardP - Artigos publicados em revistas indexadas na Medline/Pubmed by Author "Álvares, S."

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  • Associação de Arco Aórtico Cervical a Delecção 22q11 – Papel da RMN no Diagnóstico
    Publication . Almeida, R.; Álvares, S.; Fortuma, A.; Moreira, J.; Vieira, A.
    As anomalias do arco aórtico são relativamente comuns, ocorrendo em 0,5-3% da população, tendo recentemente sido reconhecidas como fazendo parte do espectro de anomalias cardiovasculares associadas à delecção do cromossoma 22q11. Actualmente a RMN surge como mais um método disponível para o seu diagnóstico, pois permite definir com precisão a anatomia vascular (nomeadamente da aorta) e as suas relações com a traqueia e esófago, obviando as limitações da ecocardiografia convencional de superfície e evitando algumas das desvantagens da angiografia convencional, nomeadamente o uso de radiação ionizante e de contraste iodado. Apresentam-se dois casos de arco aórtico cervical e CIV associados ao síndrome de DiGeorge (CATCH22 +), em cujos diagnósticos foram utilizadas a angiografia convencional e a angioressonância, respectivamente.Aortic arch anomalies are relatively common, occurring in 0.5-3% of the population. In recent years, they have been recognized as being among the cardiovascular malformations found in chromosome 22q11 deletion. MRI is now an alternative method of diagnosing aortic arch anomalies since it accurately defines aortic anatomy and its relation with the trachea and esophagus, with some advantages in comparison with echocardiography and conventional angiography. The authors present two cases of cervical aortic arch and VSD associated with DiGeorge syndrome (CATCH22 +), diagnosed by conventional angiography and magnetic resonance imaging, respectively.
    2003Journal article Open access Show more
  • A good excuse for skipping the test: electrical storm in a teenager
    Publication . Rodrigues, P.; Pinheiro-Vieira, A.; Loureiro, M.; Álvares, S.; Anjo, D.; Roque, C.; Sousa, M.; Torres, S.
    We describe the case of a teenager with a structurally normal heart that presented with torsades de pointes and cardiac arrest. He had a history of epilepsy in childhood, mild cognitive impairment and cognitive visual dysfunction. The baseline electrocardiogram had prominent J waves and a marked early repolarization pattern in all the leads, with normal QT interval. We discuss the differential diagnosis for this interesting case, as well as the patient's management.
    2016-12Journal article Open access Show more
  • A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant
    Publication . Ratola, A.; Silva, H.; Guedes, A.; Mota, C.; Braga, A.; Oliveira, D.; Alegria, A.; Carvalho, C.; Álvares, S.; Proença, E.
    Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg) in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.
    2015Journal article Open access Show more