A Giant Abdominal Aortic Aneurysm Revealing a Marfan Syndrome With a New FBN1 Mutation.

Filippetti, Laura; Dufrost, Virginie; Busby-Venner, Hélène; Hanna, Nadine; Arnaud, Pauline; Settembre, Nicla; Mandry, Damien; Malikov, Sergueï; Wahl, Denis; Zuily, Stéphane

Filippetti, Laura; Dufrost, Virginie; Busby-Venner, Hélène; Hanna, Nadine; Arnaud, Pauline; Settembre, Nicla; Mandry, Damien; Malikov, Sergueï; Wahl, Denis; Zuily, Stéphane.

Afiliación

Filippetti L; Vascular Medicine Division and Regional Competence Center For Marfan Syndrome, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France.
Dufrost V; Vascular Medicine Division and Regional Competence Center For Marfan Syndrome, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France.
Busby-Venner H; Department of Pathology, CHRU-Nancy, Nancy, France.
Hanna N; Department of Genetics and Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat and Université de Paris, Paris, France.
Arnaud P; Department of Genetics and Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat and Université de Paris, Paris, France.
Settembre N; Vascular Surgery Division, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France.
Mandry D; Department of Radiology, Université de Lorraine, INSERM, IADI, and CHRU-Nancy, Nancy, France.
Malikov S; Vascular Surgery Division, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France.
Wahl D; Vascular Medicine Division and Regional Competence Center For Marfan Syndrome, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France.
Zuily S; Vascular Medicine Division and Regional Competence Center For Marfan Syndrome, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France. Electronic address: s.zuily@chru-nancy.fr.

Can J Cardiol ; 37(11): 1870-1872, 2021 11.

Article en En | MEDLINE | ID: mdl-34400271

RESUMEN

Marfan syndrome is a connective tissue disease that rarely presents first with peripheral aortic aneurysms. We highlight the case of a young man with Marfan syndrome presenting with an abdominal aortic aneurysm due to a heterozygous fibrillin-1 gene mutation.

Asunto(s)

Aorta Abdominal/diagnóstico por imagen; Aneurisma de la Aorta Abdominal/etiología; ADN/genética; Fibrilina-1/genética; Síndrome de Marfan/complicaciones; Mutación; Adulto; Aneurisma de la Aorta Abdominal/diagnóstico; Análisis Mutacional de ADN; Fibrilina-1/metabolismo; Estudios de Seguimiento; Humanos; Imagenología Tridimensional; Masculino; Síndrome de Marfan/diagnóstico; Síndrome de Marfan/genética; Gravedad del Paciente; Factores de Tiempo; Tomografía Computarizada por Rayos X

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Aorta Abdominal / ADN / Aneurisma de la Aorta Abdominal / Fibrilina-1 / Síndrome de Marfan / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Humans / Male Idioma: En Revista: Can J Cardiol Asunto de la revista: CARDIOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Francia

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