[Cardiovascular changes in the cutis laxa congenita syndrome].
Cutis laxa is a unusual disorder of the connective tissue. It may be hereditary or acquired and from the genetical viewpoint, can be either of the dominant or of the recessive type. The autosomic dominant type, less frequent, has a late beginning and the evolution is usually benign, and it seldom has cardiovascular anomalies. On the contrary, the recessive type usually has an early beginning having frequent cardiovascular anomalies, with the outcome of death early in infancy. We report two siblings with the recessive type of the illness, having peripheral arterial stenosis of pulmonary branches. We review the literature with special attention to the angiohemodynamic findings, as there are few bibliographic reports about this subject, as well as about the different hypothesis on the pathogenesis of this illness.
Guía Torrent
J M
JM
Sección de Cardiología Pediátrica, Hospital Universitario Virgen de la Arrixaca, Murcia.
Castro García
F
F
Cuenca Gómez
M
M
Gracián Gómez
M
M
D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003483:Cutis Laxa / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype