Abstract

PIGEON OLIVEROS, Humberto; BOLIO CERDAN, Alejandro; AIZPURU AKEL, Edna  and  ERDMENGER ORELLANA, Julio. Síndrome de Holt-Oram. Un caso clínico por mutación de novo. Bol. Med. Hosp. Infant. Mex. [online]. 2004, vol.61, n.2, pp.155-159. ISSN 1665-1146.

Introduction. We inform the clinical and echocardiographic findings in a patient with Holt-Oram syndrome (HOS) and the evolution after treatment with cardiovascular surgery. Case report. It was a the novo clinic case of HOS, in a newborn girl with a bone malformation in the right hand, sindactilia in 2 fingers associated with congenital heart disease: hipoplasia of the right ventricle and lung arterial stenosis, with persistency of the arterial duct and interauricular communication type ostium secundum. The improvement in the newborn was obtained with endovascular plastia of the lung artery and palliative elective surgery at the 8 month of age. Conclusions. Early endovascular and palliative elective surgery permit a better prognosis in the infants with HOS.

Keywords : Holt-Oram syndrome; congenital heart disease; oseous malformations; associated; cardiosurgery; genetic study.