Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion).
We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.
Sylos
Cristina de
Cd
Instituto do Carcao do Hospital das Clinical, Sao Paulo, Brazil. crsylos@netpoint .com.br
Pereira
Alexandre C
AC
Azeka
Estela
E
Miura
Nana
N
Mesquita
Sônia Maria Ferreira
SM
Ebaid
Munir
M
D001013:Aorta, Thoracic / Q000002:abnormalities*; D006328:Cardiac Catheterization; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D006973:Hypertension / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D012078:Renal Artery Obstruction / Q000150:complications* / Q000175:diagnosis; D018980:Williams Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology