SCardP - Artigos publicados em revistas indexadas na Medline/Pubmed
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- Associação de Arco Aórtico Cervical a Delecção 22q11 – Papel da RMN no DiagnósticoPublication . 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.
- Cardiac involvement in metabolic diseasesPublication . PEREIRA, A.; MARTINS, E.; CARVALHO, C.; ALVARES, S.Rev Port Cardiol. 1999 Jan;18(1):53-7. [Cardiac involvement in metabolic diseases] [Article in Portuguese] Pereira A, Martins E, Carvalho C, Alvares S. Unidade de Cardiologia Pediátrica, Hospital de Crianças Maria Pia. Erratum in: Rev Port Cardiol 1999 Feb;18(2):131. Abstract OBJECTIVE: To evaluate cardiac involvement in children with metabolic disease in the out patient clinic of the Pediatric Cardiology Unit of Maria Pia Children's Hospital and their follow-up. MATERIAL AND METHODS: Twenty-nine medical records belonging to out patients with metabolic disease in consultation at our unit were reviewed. The following data from each record was analyzed: sex, metabolic disease diagnosis, age and motive for referral to a pediatric cardiology unit, cardiology diagnosis, therapy and evolution. RESULTS: Seventeen patients were boys and 12 girls. The average age of referral was 7.2 years (SD 4.8). The motives for referral were: screening for heart disease, 16; heart murmur, 7; congestive heart failure, 3; heart murmur and fatigue, 2; poor weight gain, 1. The following metabolic diagnoses were made: lysosomal diseases, 21; mitochondrial citopathies, 5; disorder of beta-oxidation of fatty acids, 2; carbohydrate deficient glycoprotein syndrome (CDG syndrome), 1. The cardiologic evaluation was normal in ten patients (4 with lysosomal disease, 4 with mitochondrial citopathy, one disorder of beta-oxidation of fatty acids, the CDG syndrome). Mitral and aortic valve lesions predominated in lysosomal diseases (12/21); myocardial involvement alone was present in two patients, and both myocardial and valvular lesions were present in three. Dilated cardiomyopathy was the presented manifestation in two patients-one with mitochondrial citopathy and one with a disorder of beta-oxidation of fatty acids. Three patients died and 26 remain out-patients. One patient was submitted to valve surgery. The average duration of follow-up was 21 months (SD 24). COMMENTS: Lysosomal diseases were the most representative in our patients, as described in the literature. Heart valve disease was the most frequent alteration. Indication for heart valve surgery is dependent on systemic involvement of the primary disease. All children with a metabolic disease with eventual heart involvement should be evaluated periodically by a cardiology unit. On the other hand, it is mandatory to screen a cardiomyopathy of unknown cause for a metabolic disease. The authors draw attention to the importance of infectious endocarditis prophylaxis in this group of patients. PMID: 10091525 [PubMed - indexed for MEDLINE
- A good excuse for skipping the test: electrical storm in a teenagerPublication . 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.
- A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm InfantPublication . 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.
- Study on COgnition and Prognosis in the Elderly (SCOPE)Publication . HANSSON, L.; LITHELL, H.; SKOOG, I.; BARO, F; BANKI, C.M.; BRETELER, M.; CARBONIN, P.U.; CASTAIGNE, A.; CORREIA, M.; DEGAUTE, J.P.; ELMFELDT, D.; ENGEDAL, K.; FARSANG, C.; FERRO, J.; HACHINSKI, V.; HOFMAN, A.; JAMES, O.F.; KRISIN, E.; LEEMAN, M.; DE LEEUW, P.W.; LEYS, D.; LOBO, A.; NORDBY, G.; OLOFSSON, B.; ZANCHETTI, A.; ET ALBlood Press. 1999;8(3):177-83. Study on COgnition and Prognosis in the Elderly (SCOPE). Hansson L, Lithell H, Skoog I, Baro F, Bánki CM, Breteler M, Carbonin PU, Castaigne A, Correia M, Degaute JP, Elmfeldt D, Engedal K, Farsang C, Ferro J, Hachinski V, Hofman A, James OF, Krisin E, Leeman M, de Leeuw PW, Leys D, Lobo A, Nordby G, Olofsson B, Zanchetti A, et al. University of Uppsala, Department of Public Health, Sweden. Abstract The Study on COgnition and Prognosis in the Elderly (SCOPE) is a multicentre, prospective, randomized, double-blind, parallel-group study designed to compare the effects of candesartan cilexetil and placebo in elderly patients with mild hypertension. The primary objective of the study is to assess the effect of candesartan cilexetil on major cardiovascular events. The secondary objectives of the study are to assess the effect of candesartan cilexetil on cognitive function and on total mortality, cardiovascular mortality, myocardial infarction, stroke, renal function, hospitalization, quality of life and health economics. Male and female patients aged between 70 and 89 years, with a sitting systolic blood pressure (SBP) of 160-179 mmHg and/or diastolic blood pressure (DBP) of 90-99 mmHg, and a Mini-Mental State Examination (MMSE) score of 24 or above, are eligible for the study. The overall target study population is 4000 patients, at least 1000 of whom are also to be assessed for quality of life and health economics data. After an open run-in period lasting 1-3 months, during which patients are assessed for eligibility and those who are already on antihypertensive therapy at enrolment are switched to hydrochlorothiazide 12.5 mg o.d., patients are randomized to receive either candesartan cilexetil 8 mg once daily (o.d.) or matching placebo o.d. At subsequent study visits, if SBP remains >160 mmHg, or has decreased by <10 mmHg since the randomization visit, or DBP is >85 mmHg, study treatment is doubled to candesartan cilexetil 16 mg o.d. or two placebo tablets o.d. Recruitment was completed in January 1999. At that time 4964 patients had been randomized. All randomized patients will be followed for an additional 2 years. If the event rate is lower than anticipated, the follow-up will be prolonged. PMID: 10595696 [PubMed - indexed for MEDLINE]
- [Transient hypertrophic neonatal myocardiopathy after acute fetal distress]Publication . GUIMARÃES, P.; TEIXEIRA, F.; MORAIS, L.; ALVARES, S.Rev Port Cardiol. 1998 Jan;17(1):89-92. [Transient hypertrophic neonatal myocardiopathy after acute fetal distress]. [Article in Portuguese] Guimarães P, Teixeira F, Morais L, Alvares S. Unidade de Cardiologia Pediátrica, Hospital de Crianças Maria Pia. Abstract Hypertrophic cardiomyopathy is rare in neonates. The causes include metabolic disease, maternal diabetes, dexamethasone therapy in premature newborns for bronchopulmonary dysplasia and idiopathic hypertrophic cardiomyopathy. The authors present a case report regarding a neonate with transient hypertrophic cardiomyopathy, after acute fetal distress. Signs of congestive cardiac failure appeared at day 1. Echocardiography showed signs of mild pulmonary hypertension and normal ventricular wall thickness. Echocardiography on day 2 showed hypertrophy of myocardial walls affecting first the right ventricular anterior wall and the interventricular septum, followed by the left ventricular posterior wall. With therapy, clinical improvement was noted on day 4. The ventricular wall thickness was almost normal at three weeks. The authors alert physicians to the importance of echocardiographic examination of these neonates. PMID: 9580509 [PubMed - indexed for MEDLINE]