title: Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.
abstract: Hypoplasia of the aorta is a rare entity comprising tubular hypotrophy of a large segment of the thoracic and the abdominal aorta. We report for the first time the case of a 26-year-old man with Emery-Dreifuss muscular dystrophy presenting severe and diffuse hypoplasia of the aorta.
authors.affiliation: Department of Cardiology, University Teaching Hospital of Caen, Caen, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Coutance
authors.forename: Fabien
authors.initials: F
authors.lastname: Labombarda
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Cauderlier
authors.forename: Annette
authors.initials: A
authors.lastname: Belin
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
authors.forename: Françoise
authors.initials: F
authors.lastname: Chapon
mesh_terms: D000328:Adult; D001011:Aorta / Q000002:abnormalities*; D001027:Aortography / Q000379:methods; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D014057:Tomography, X-Ray Computed; D054079:Vascular Malformations / Q000175:diagnosis / Q000235:genetics*
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A