Beginning with a patient presenting with an atrial septal defect (ASD) of the secundum type, the genealogy was identified in four affected individuals who belonged to three successive generations of the same family. The defects were visually confirmed in all individuals and were found to be anatomically similar. No other congenital malformations were present in these individuals. The genealogy was identified in 1972, when ASD recurred in two generations, and it was concluded that the mechanism of transmission was autosomal recessive. The fifth individual, identified 21 years later, and having an anomaly identical to that of the others, was the child of a couple who had no consaguinity and whose mother was a member of the previously studied genealogy. Considering the absence of phenotype in the parents and the rarity of the ASD gene in the general population, the occurrence of the uniparental disomy for this family nucleus, and the same autosomal recessive mechanism of transmission by this affected individual is possible. This study reports the familial occurrence of ASD by genetic mechanisms of transmission, emphasizing the necessity for genetic-clinical studies in members of the familial nucleus in order to detect new carriers, who usually are asymptomatic, thereby allowing for early and adequate treatment of individuals who may be affected.

OBJETIVO: Verificar a prevalência de sinais de "coração de atleta" em desportistas deficientes para-olímpicos. MÉTODOS: Avaliação clínica, eletrocardiográfica, ecocardiográfica, vetorcardiográfica, ergométrica em 75 atletas, 27,8±6,7 anos, 56 homens, várias modalidades; com deficiência física (47), visual (12) e paralisia cerebral (16). RESULTADOS: Sinais de coração de atleta ocorreram em 33% dos exames clínicos (sopros e estalidos), em 55% dos eletrocardiogramas (bradicardia, bloqueio incompleto de ramo direito, sobrecargas, alterações de onda T), em 15% dos vetorcardiograma (sobrecargas), em 5% dos ecocardiogramas (dimensões cavitárias acima do habitual). Os sinais ocorreram em 51% dos atletas, sendo que em 46% dos casos havia 2 ou mais sinais e, em 12%, 4 ou mais sinais. O TE foi normal em 77% dos atletas; não houve ST isquêmico. Em 23% dos casos houve bloqueio divisional direito. CONCLUSÃO: Foram encontrados dois ou mais sinais de coração de atleta em 46% dos atletas deficientes para-olímpicos.

PURPOSE: To assess the prevalence of the athlete's, heart syndrome in elite disabled Brazilians athletes. METHODS: Seventy-five athletes, age 27.8±6.7 years, 56 men, with various disabilities (47 physical, 12 visual and 16 cerebral paralysis) underwent clinical, electrocardiographic, vectorcardiographic, ergometric and echocardiographic evaluations. RESULTS: Athlete's heart signs occurred in 33% of the clinical evaluations, in 55% of the electrocardiograms, in 15% of the vectorcardiograms, and in 5% of the echocardiograms. At least one of these signs was presented in 51% of the athletes. There were 2 or more abnormalities in 46% of the athletes and 4 or more signs in 12%. Exercise test was considered not ischemic in 77% of the subjects. There was right bundle branch block in 23% of the tests. CONCLUSION: There were two or more athlete's heart syndrome signs in 46% of Brazilian disabled athletes.

OBJETIVO: Avaliar se o enalaprilato, droga inibidora da enzima de conversão da angiotensina I, previne a hipertrofia ventricular esquerda (HVE) induzida pelo isoproterenol. MÉTODOS: Foram divididos em 4 grupos, 72 ratos Wistar-EPM: CON controle; ENA, tratados com enalaprilato (1mg/kg via subcutânea (sc) por 8 dias); ISO, tratados com isoproterenol (0,3mg/kg via sc/8 dias) e ENA+ISO, tratados simultaneamente com ambas as drogas. Em 10 animais de cada grupo foram determinadas a freqüência cardíaca (FC) e a pressão arterial (PA) e verificado o peso de ventrículo esquerdo (VE). Em 8 animais de cada grupo, fragmento do VE foi corado com hematoxilina-eosina e picro-sírius e preparado para estudo morfométrico e ultra-estrutural, respectivamente, com microscópio de luz e eletrônico. RESULTADOS: Nos grupos estudados (CON, ENA, ISO e ISO+ENA) não ocorreram variações na PA. Os grupos ISO e ISO+ENA exibiram aumentos significantes na FC. O grupo ISO apresentou aumento significativo do peso do VE (PU= 0,821g e PS= 0,204g), quando comparado ao grupo CON. O grupo ENA não exibiu modificação de peso do VE quando comparado ao grupo CON (PU= 0,590g e PS= 0,139g). No grupo ENA+ISO (PU= 0,737g e PS= 0,177g) constatou-se diferença de peso ao ser comparado aos grupos ISO e CON. A análise morfométrica e ultra-estrutural mostraram que o ISO induziu hipertrofia dos cardiomiócitos e aumento do tecido conjuntivo com depósito de fibras colágenas do tipo I. O enalaprilato associado com isoproterenol atenuou importantemente aquela manifestação. CONCLUSÃO: O enalaprilato inibiu a ação do isoproterenol sobre os cardiomiócitos, evitando parcialmente, na dose utilizada, a HVE e diminuindo também a quantidade de fibras colágenas.

PURPOSE: To evaluate whether the enalaprilat, angiotensin I enzyme conversion inhibitor, could prevent the left ventricular hypertrophy (LVH) induced by isoproterenol. METHODS: Seventy two adult Wistar-EPM rats were divided into four groups: CON, control; ENA, treated with enalaprilat (1mg/kg via subcutaneous (sc) for 8 days); ISO, treated with isoproterenol (0.3mg via sc for 8 days) e ENA+ISO, treated with both drugs simultaneously. Each group had the arterial blood pressure, cardiac rate and the left ventricle (LV) weight determined in 10 animals. In 8 animals from each group a small sample was taken from the LV and stained with hematoxyline-eosine and picrosirius for morphometric and ultra-structural studies with optic and transmission electronic microscopy. RESULTS: The ISO group showed that the LV weight increased 47% in comparison with control. On the other hand the ENA+ISO group showed only 22.1% increase (p<0.05). The morphometric and ultra-structural analyses revealed that isoproterenol induced cardiomyocite hypertrophy and augmented the content of the type I collagen in the cardiac interstitium. CONCLUSION: Enalaprilat inhibited the isoproterenol action on the cardiomyocite, avoiding partially the LVH and decreasing the content of collagen fibers.