title: Holt-Oram syndrome presenting as agenesis of the left pericardium.
abstract: We report on a case of a 60-year-old man with progressive heart failure, mitral and aortic valve insufficiency and bilateral asymmetrical skeletal upper-limb deformities. Central to the suspicion of Holt-Oram syndrome in this patient was the surgical finding of agenesis of the left pericardium. A Holt-Oram syndrome diagnostic was confirmed through molecular analysis of the TBX5 gene. A new amino acid substitution at position 61 of the TBX5 gene was identified and confirmed the clinical diagnosis of Holt-Oram syndrome. The clinical presentation of the present case broadens the clinical spectrum of Holt-Oram syndrome and point out the importance of Tbx 5 in pericardium development. It is still an unstudied issue whether TBX5 mutations may also be present in other clinical presentations where absence of the pericardium is a feature.
authors.forename: Ricardo Ribeiro
authors.initials: RR
authors.lastname: Dias
authors.forename: João M A C
authors.initials: JM
authors.lastname: Albuquerque
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
authors.forename: Noedir A G
authors.initials: NA
authors.lastname: Stolf
authors.forename: Jose E
authors.initials: JE
authors.lastname: Krieger
authors.forename: Charles
authors.initials: C
authors.lastname: Mady
authors.forename: Sérgio A
authors.initials: SA
authors.lastname: Oliveira
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001132:Arm / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010496:Pericardium / Q000002:abnormalities*; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5