RESUMO
Gaucher's disease is the most prevalent sphingolipid storage disease, characterised by substantial genetic and phenotypic variability. Cardiac manifestations are rare. We report 12 Arab Gaucher's disease patients, 2-20 years of age, who presented with oculomotor apraxia but only slight classic signs of the disease. All but the youngest had calcifications of the aortic or mitral valves or both. All these patients were homozygous for the rare point mutation D409H (1342C). Valvular calcifications increased with age and showed progression during 2 years of follow-up. Two of the oldest patients underwent aortic valve replacement, and one sibling had died suddenly at age 16, before this study, Corneal opacities were another common feature. The potentially fatal course of this Gaucher's disease variant, and the availability of a reliable PCR-based method for heterozygote detection, mean that population screening and genetic counselling in the geographic area at risk are important. Affected individuals should be closely monitored by echocardiography to gauge the need for valve replacement. The potential of enzyme replacement to prevent these cardiac complications cannot be ascertained at present, because of the high cost of therapy.
Assuntos
Calcinose/genética , Doença de Gaucher/genética , Doenças das Valvas Cardíacas/genética , Adolescente , Adulto , Calcinose/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Doença de Gaucher/diagnóstico , Variação Genética , Genótipo , Doenças das Valvas Cardíacas/diagnóstico por imagem , Humanos , Masculino , UltrassonografiaRESUMO
The midline is a major determinant in the lateral symmetry of the embryo and represents a developmental field which, if defective, may lead to an abnormal situs determination. A family in which four out of seven children had situs inversus and/or congenital heart defects is presented. This report confirms the autosomal recessive inheritance of this developmental field defect.
Assuntos
Anormalidades Múltiplas/genética , Cardiopatias Congênitas/genética , Situs Inversus/genética , Adulto , Criança , Feminino , Genes Recessivos , Humanos , MasculinoRESUMO
A 29-hour-old male infant underwent first-stage surgical palliation for hypoplastic left heart syndrome. The procedure comprised reconstruction of the ascending aorta and controlled pulmonary flow through an aortopulmonary shunt. Surgical principles and guidelines in management of these very sick neonates are discussed.
