Resumo

DE RUBENS-FIGUEROA, Jesús; ZEPEDA-OROZCO, Gabriela  e  GONZALEZ-ROSAS, Alma. Klippel-feil syndrome, a skeletal muscle disease associated to cardiovascular anomalies. Bol. Med. Hosp. Infant. Mex. [online]. 2005, vol.62, n.5, pp.348-355. ISSN 1665-1146.

Introduction. Klippel-Feil syndrome is a hereditary autosomal dominant disease with reduced penetrance and variable expression. It is characterized by multiple malformations but the 3 more constant are short neck, diminished mobility of the same and low implantation of posterior hair, associated to other congenital malformations as cardiopathy (4-14%).The diagnosis of cardiopathy must be done, first by knowledge of the association with this syndrome and after by clinical suspicion plus echocardiogram. Material and methods. In a study of 22 years in the National Institute of Pediatrics, we found 46 cases with Klippel-Feil syndrome of which 7 had cardiovascular anomalies.These were diagnosed with echocardiogram. Results. Of the 46 cases, 19 were evaluated by cardiologists; of these 7 (15%) had cardio-pulmonary malformations. Other malformations included: interauricular septal defect (ASD), interventricular septal defect (VSD), pulmonary stenosis (EP) and dextrocardia and one patient presented primary pulmonary hypertension.As of this communication, all patients are living. Conclusion. In this series, the proportion of cardiovascular anomalies was 15%. We conclude that all patients with Klippel-Feil syndrome should have a thorough cardiological evaluation including an echocardiogram.

Palavras-chave : Klippel-Feil syndrome; abnormalities; congenital fusion of cervical vertebrae; heart defects; congenital.

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