[Pulmonary artery aneurysm. A case report]. / Aneurisma de la arteria pulmonar. Presentación de un caso.

The pulmonary artery aneurysm is a rare clinical entity that presents a low incidence and prevalence, of difficult diagnosis to be presented with poorly specific symptoms or also without symptoms, being detected in radiological studies as a widening or mediastinal mass. It can be uni or bilateral and presenting itself isolated or in the context of other sicknesses. The diagnosis of certainty is based in the realization of Echo-Doppler and other studies as a tomography or a magnetic resonance, the therapeutic option being so difficult, and according to cases, by an expectant or aggressive attitude.

[The Holt-Oram syndrome. Entelechy or clinical entity? A mild form of familial presentation]. / Síndrome de Holt-Oram. Entelequia o entidad clínica? Una forma leve de presentación familiar.

According to the description made by Holt and Oram in 1960, a wide group of associated skeletal and cardiac malformations was named as syndrome of Holt-Oram. The morpho-anatomic and functional expression of the syndrome are so great in extension, that it is possible to think of several clinical entities with common manifestations; or perhaps, in a common entity with different clinical and functional expressions. Undoubtedly, the interest in the knowledge and diagnostic of the disease is due mainly to the hereditary condition, as demonstrated in a great number of cases, though they had been observed some generations without antecedents, with the possible explanation of genetic mutation. In this paper, are demonstrated the descriptive findings in a patient, male, 32 years old, with the diagnostic of Holt-Oram syndrome, and also the results of the study of the near members of his family. This study allowed to find other affected persons with manifestations that probably can be the result of new mutations. The paper is completed with a wide review of the pertinent bibliography.