title: [Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].
abstract: Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26mm, Z-score=+4.24). A genetic investigation found a TGFβR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-β vasculopathy such as Loeys-Dietz syndrome.
authors.affiliation: Service de cardiologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
authors.forename: M-J
authors.initials: MJ
authors.lastname: De Potter
authors.affiliation: Service d'endocrinologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
authors.forename: T
authors.initials: T
authors.lastname: Edouard
authors.affiliation: Service de cardiologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
authors.forename: R
authors.initials: R
authors.lastname: Amadieu
authors.affiliation: Service de génétique médicale, centre de compétence du syndrome de Marfan et des syndromes apparentés, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
authors.forename: J
authors.initials: J
authors.lastname: Plaisancié
authors.affiliation: Service de génétique médicale, centre de compétence du syndrome de Marfan et des syndromes apparentés, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
authors.forename: S
authors.initials: S
authors.lastname: Julia
authors.affiliation: Service de cardiologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
authors.forename: K
authors.initials: K
authors.lastname: Hadeed
authors.affiliation: Service de cardiologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
authors.forename: S
authors.initials: S
authors.lastname: Hascoët
authors.affiliation: Service de cardiologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
authors.forename: P
authors.initials: P
authors.lastname: Acar
authors.affiliation: Service de cardiologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France. Electronic address: dulac.y@chu-toulouse.fr.
authors.forename: Y
authors.initials: Y
authors.lastname: Dulac
mesh_terms: D017545:Aortic Aneurysm, Thoracic / Q000235:genetics; D015415:Biomarkers / Q000378:metabolism; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005660:Funnel Chest / Q000235:genetics; D006618:Hip Dislocation, Congenital / Q000235:genetics; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D011237:Predictive Value of Tests; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D012680:Sensitivity and Specificity; D014609:Uvula / Q000002:abnormalities*
chemical_list: D015415:Biomarkers; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II