RESUMO
BACKGROUND: Hypoplastic left heart syndrome (HLHS) is a rare but genetically complex and clinically and anatomically severe form of congenital heart disease (CHD). CASE PRESENTATION: Here, we report on the use of rapid prenatal whole-exome sequencing for the prenatal diagnosis of a severe case of neonatal recurrent HLHS caused by heterozygous compound variants in the MYH6 gene inherited from the (healthy) parents. MYH6 is known to be highly polymorphic; a large number of rare and common variants have variable effects on protein levels. We postulated that two hypomorphic variants led to severe CHD when associated in trans; this was consistent with the autosomal recessive pattern of inheritance. In the literature, dominant transmission of MYH6-related CHD is more frequent and is probably linked to synergistic heterozygosity or the specific combination of a single, pathogenic variant with common MYH6 variants. CONCLUSIONS: The present report illustrates the major contribution of whole-exome sequencing (WES) in the characterization of an unusually recurrent fetal disorder and considered the role of WES in the prenatal diagnosis of disorders that do not usually have a genetic etiology.
Assuntos
Cardiopatias Congênitas , Hereditariedade , Síndrome do Coração Esquerdo Hipoplásico , Gravidez , Recém-Nascido , Feminino , Humanos , Síndrome do Coração Esquerdo Hipoplásico/diagnóstico por imagem , Síndrome do Coração Esquerdo Hipoplásico/genética , Cardiopatias Congênitas/genética , Diagnóstico Pré-Natal , Cadeias Pesadas de Miosina/genética , Miosinas Cardíacas/genéticaRESUMO
Fibrous dysplasia is a rare disorder of the bone. It is seen in two main forms of presentation: monostotic and the polyostotic. A case of monostotic fibrous dysplasia of the maxillary and palatine bones in a 22-year old man who received prosthetic reconstruction is presented with a review of the literature.
Assuntos
Displasia Fibrosa Monostótica/cirurgia , Maxila/cirurgia , Palato Duro/cirurgia , Procedimentos de Cirurgia Plástica , Próteses e Implantes , Adulto , Humanos , Masculino , Procedimentos de Cirurgia Plástica/métodos , Adulto JovemRESUMO
Fibrous dysplasia is a rare disorder of the bone. It is seen in two main forms ofpresentation: monostotic and the polyostotic. A case of monostotic fibrous dysplasia of the maxillary and palatine bones in a 22-year old man who received prosthetic reconstruction is presented with a review of the literature.
La displasia fibrosa es un trastorno raro del hueso. Se le ve en dos formas principales: la monostótica y la poliostótica. Junto con la correspondiente revisión de la literatura, se presenta un caso de displasia fibrosa monostótica de los huesos maxilar y palatino en un hombre de 22 anos que recibió una reconstrucción prostética.
