[Subvalvular aortic stenosis associated with 8p23 deletion].
We report the case of a 35-year-old man admitted due to heart failure, who had had moderate cognitive deficit, craniofacial dysmorphism, epilepsy, panic attacks and congenital heart disease (subvalvular aortic stenosis) associated with chronic atrial fibrillation since childhood. In view of his facial dysmorphism and clinical presentation, karyotype analysis was performed and revealed a de novo interstitial deletion in chromosome 8 in the region p23.1-p23.2. This is a rare chromosomal anomaly (about 50 descriptions in the literature), whose most common manifestations include heart defects, cognitive retardation and behavioral disturbances. In this paper we present the first case with associated subvalvular aortic stenosis and review the literature on this chromosomal abnormality.
Serviço de Medicina I, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal. patricio_aguiar@yahoo.com.br
Patrício
P
Aguiar
Diogo
D
Cruz
Rita
R
Ferro Rodrigues
Francisco
F
Araújo
José Luís
JL
Ducla Soares
D000328:Adult; D001020:Aortic Stenosis, Subvalvular / Q000235:genetics*; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006801:Humans; D008297:Male