Recurrence of atrial septal defect in three generations

Recurrence of atrial septal defect in three generations

Autor Ferreira, Celso Autor UNIFESP Google Scholar
Farah, Leila Montenegro Silveira Autor UNIFESP Google Scholar
Póvoa, Rui Manuel dos Santos Autor UNIFESP Google Scholar
Luna Filho, Bráulio Autor UNIFESP Google Scholar
Costa, Andréa Autor UNIFESP Google Scholar
Ferreira Filho, Celso Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo 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.
Idioma Inglês
Data de publicação 1999-08-01
Publicado em Arquivos Brasileiros de Cardiologia. Sociedade Brasileira de Cardiologia - SBC, v. 73, n. 2, p. 211-218, 1999.
ISSN 0066-782X (Sherpa/Romeo)
Publicador Sociedade Brasileira de Cardiologia - SBC
Extensão 211-218
Fonte http://dx.doi.org/10.1590/S0066-782X1999000800009
Direito de acesso Acesso aberto Open Access
Tipo Artigo
SciELO S0066-782X1999000800009 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/809

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