Síndrome de Holt-Oram / Holt-Oram syndrome

Presentamos el caso de una mujer de 28 años, diagnosticada de prolapso de la válvula mitral con insuficiencia mitral moderada que ingresó en la unidad para monitorización del ritmo cardíaco al presentar arritmias ventriculares con el hallazgo de QTc prolongado sin causa conocida. Durante su ingreso mostró, sin embargo, predominancia de la bradicardia sinusal, marcapasos errante y en ocasiones taquicardias supraventriculares. La observación de los trastornos del ritmo, las malformaciones esqueléticas, similares a las presentes en un familiar directo y el diagnóstico de cardiopatía estructural nos hizo pensar en la presencia de un síndrome mendeliano que englobara estos hallazgos. Esto facilitó el diagnóstico del síndrome de Holt-Oram (AU)

Traumatic rupture of the pericardium. Case report and literature review.

Rupture of the pericardium due to blunt thoracic trauma is a rare pathology with a range of mortality between 30 and 64% according to different authors. We review 40 cases which have been reported in the literature in the last decade and report a case of our own. We have found that 82% of the patients with traumatic rupture of the pericardium were men with a mean age of 45 years. In 80% of the cases the cause was a motor vehicle accident, 17% were due to falls and only 1 case was associated with a crush. The commonest location of the tear was the left pleuropericardium (62%) followed by the diaphragmatic portion of the pericardium (22%). In 80% of the cases the diagnosis was achieved in the course of a surgery performed for associated lesions. None of the cases was diagnosed in a post-mortem study. The traumatic rupture of the pericardium is a disease which often remains undiagnosed, especially when one does not have a high index of suspicion. Nevertheless, this is a disease which can threaten the life of the patient and we should keep it in mind to diagnose and treat it as soon as possible. It is known that an early and aggressive management of these patients implies a much better prognosis with a significant reduction of the mortality. In this article we want to give useful clues to allow a preoperative diagnosis and an early and adequate management.