Anomalia de Ebstein detectada in utero e síndrome de Down: diagnóstico pré-natal de uma combinação rara / Intrauterine detection of Ebstein's anomaly and Down's syndrome: prenatal diagnosis of a rare combination

A anomalia de Ebstein é uma doença rara, embora seja a malformação mais comum da valva tricúspide. A associação com outras síndromes e anomalias extracardíacas é muito incomum e matéria de poucos relatos de caso. Apresenta-se um caso de diagnóstico pré-natal de anomalia de Ebstein em um paciente com síndrome de Down.

Sindrome de Marfan. Forma precoce e grave em irmãos / Marfan's syndrome: early and severe form in siblings

Marfan's syndrome is an inherited disorder of the connective tissue. Cardiologic manifestations, especially aortic dilation, are important causes of morbidity and mortality in the clinical course of the disease in adults and teenagers. In children, the presence of aortic aneurysm and its dissection or rupture is rare, occurring in patients with genetic mutation of the fibrillin gene but not in those who have the familial form of the disease. We describe here 2 patients, from the same family (siblings), diagnosed with gigantic aortic aneurysm early in infancy, one of them successfully undergoing surgery