Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion)

Cristina de Sylos; Alexandre C Pereira; Estela Azeka; Nana Miura; Sônia Maria Ferreira Mesquita; Munir Ebaid

doi:10.1590/s0066-782x2002001100009

Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion)

Arq Bras Cardiol. 2002 Aug;79(2):173-80. doi: 10.1590/s0066-782x2002001100009.

[Article in English, Portuguese]

Authors

Cristina de Sylos¹, Alexandre C Pereira, Estela Azeka, Nana Miura, Sônia Maria Ferreira Mesquita, Munir Ebaid

Affiliation

¹ Instituto do Carcao do Hospital das Clinical, Sao Paulo, Brazil. crsylos@netpoint .com.br

PMID: 12219191
DOI: 10.1590/s0066-782x2002001100009

Abstract

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.

Publication types

Case Reports

MeSH terms

Aorta, Thoracic / abnormalities*
Cardiac Catheterization
Child
Chromosome Deletion*
Chromosomes, Human, Pair 7*
Humans
Hypertension / drug therapy
Hypertension / genetics*
Male
Renal Artery Obstruction / complications*
Renal Artery Obstruction / diagnosis
Williams Syndrome / complications*
Williams Syndrome / genetics
Williams Syndrome / physiopathology