Severely calcified valvular aortic stenosis firstly diagnosed in monozygotic male twins with suspected Williams-Beuren syndrome.
Jpn Heart J
; 45(5): 877-83, 2004 Sep.
Article
en En
| MEDLINE
| ID: mdl-15557730
ABSTRACT
Williams-Beuren syndrome is a rare and usually sporadic genetic anomaly with an estimated frequency of 125,000, that also has cardiac defects due to the effect on the elastin locus of a deletion on the 7th chromosome. Identical twin boys presented with exercise-induced syncope. Echocardiographic examination revealed severe calcification at the aortic valves, mitral anterior leaflets, and mitral annuli in both cases. A basal interventricular septum was also involved in one case. Doppler evaluation demonstrated severe aortic stenosis with a peak gradient of 112 and 118 mmHg in both cases. Moderate mitral stenosis was also detected in one twin. We performed aortic mechanical valve replacement and dilated the aortic annulus with Nick's procedure and evaluated the diagnosis and therapy methods in light of the literature. As a result, we determined that these boys are the first monozygotic twins who were diagnosed during childhood.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Estenosis de la Válvula Aórtica
/
Gemelos Monocigóticos
/
Calcinosis
/
Síndrome de Williams
/
Enfermedades en Gemelos
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Male
Idioma:
En
Revista:
Jpn Heart J
Año:
2004
Tipo del documento:
Article
País de afiliación:
Turquía