%0 Journal Article
%T Muerte s迆bita por disecci車n a車rtica circunferencial con intususpecci車n 赤ntimo-intimal en un adulto joven con S赤ndrome de Noonan Sudden death due to aortic circumferential dissection with intimo-intimal intussusception in a young adult with Noonan Syndrome
%A B. Cardona
%A S. Giner
%A J.M. Muˋoz-Quir車s
%A P. Molina
%J Cuadernos de Medicina Forense
%D 2012
%I Asociaci車n Andaluza de M谷dicos Forenses
%X El S赤ndrome de Noonan es un trastorno gen谷tico de herencia autos車mica dominante con expresividad variable y asociado a m迆ltiples anormalidades. Las manifestaciones cl赤nicas m芍s importantes de este s赤ndrome son entre otras la estatura corta, cuello ancho, hipertelorismo, exoftalmos y ptsosis palpebral. Suelen presentar malformaciones cardiacas tales como la displasia con estenosis valvular pulmonar y la miocardiopat赤a hipertr車fica. El inter谷s de este cuadro en Patolog赤a Forense se debe a que es posible su presentaci車n en forma de muerte s迆bita sin ning迆n tipo de cl赤nica previa. Se presenta el caso de una persona de sexo masculino de 18 a os de edad, el cual se desplom車 en la v赤a p迆blica. Diagnosticado de S赤ndrome de Noonan sin controles m谷dicos en ese momento. El estudio necr車psico revel車 la presencia de una disecci車n a車rtica con intususpecci車n 赤ntimo-intimal. KNoonan syndrome is a relatively common autosomal dominant disorder whose pathophysiology is not fully understood. Its clinical features are characterized by dysmorphic facial features, webbing of the neck, proportionate short stature and heart disease (most commonly pulmonary valve stenosis and hypertrophic cardiomyopathy). In rare occasions, Noonan syndrome could have interest in forensic medicine due to their unexpected presentation as a sudden death episode without previous clinical symptoms. In this report, we present the case of a subject (male, 18 years old) who suddenly collapsed in the street. His parents known the previous NS diagnosis, but at the moment of death he was not under medical control or treatment. Autopsy findings revealed an aortic dissection with intimo-intimal intussusception.
%K S赤ndrome de Noonan
%K Muerte s迆bita cardiaca
%K V芍lvula a車rtica bic迆spide
%K Patolog赤a Forense
%K Noonan syndrome
%K Sudden cardiac death
%K Bicuspid aortic valve
%K Forensic pathology
%U http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1135-76062012000200007