title: Holt-Oram syndrome: a case report.
abstract: Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe the case of a 75-year-old man with known morphological alterations of the upper limbs since birth and congenital cardiac defect (atrial septal defect), who later in life also manifested with advanced atrioventricular block.
authors.affiliation: Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal. Electronic address: joanachin@yahoo.com.
authors.forename: Joana
authors.initials: J
authors.lastname: Chin
authors.affiliation: Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
authors.forename: Salomé
authors.initials: S
authors.lastname: Pereira
authors.affiliation: Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Camacho
authors.affiliation: Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
authors.forename: Bernardo
authors.initials: B
authors.lastname: Pessoa
authors.affiliation: Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
authors.forename: Dina
authors.initials: D
authors.lastname: Bento
authors.affiliation: Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
authors.forename: José
authors.initials: J
authors.lastname: Amado
authors.affiliation: Radiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Pereira
authors.affiliation: Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
authors.forename: Ilídio
authors.initials: I
authors.lastname: de Jesus
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000368:Aged; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis*; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis*; D008297:Male; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis*
keywords: Atrial septal defect; Defeito septo interauricular; Hand-heart syndrome; Holt-Oram syndrome; Síndrome Holt-Oram; Síndrome mão-coração; T-BOX; T-box