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Cuadernos de Medicina Forense

versión impresa ISSN 1135-7606


CARDONA, B. et al. Sudden death due to aortic circumferential dissection with intimo-intimal intussusception in a young adult with Noonan Syndrome. Cuad. med. forense [online]. 2012, vol.18, n.2, pp.89-94. ISSN 1135-7606.

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.

Palabras clave : Noonan syndrome; Sudden cardiac death; Bicuspid aortic valve; Forensic pathology.

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