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Holt-Oram syndrome: a case report.
Chin, Joana; Pereira, Salomé; Camacho, Ana; Pessoa, Bernardo; Bento, Dina; Amado, José; Pereira, Jorge; de Jesus, Ilídio.
Afiliación
  • Chin J; Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal. Electronic address: joanachin@yahoo.com.
  • Pereira S; Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
  • Camacho A; Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
  • Pessoa B; Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
  • Bento D; Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
  • Amado J; Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
  • Pereira J; Radiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
  • de Jesus I; Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.
Rev Port Cardiol ; 33(11): 737.e1-5, 2014 Nov.
Article en En | MEDLINE | ID: mdl-25455949
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Deformidades Congénitas de las Extremidades Inferiores / Deformidades Congénitas de las Extremidades Superiores / Cardiopatías Congénitas / Defectos del Tabique Interatrial Límite: Aged / Humans / Male Idioma: En Revista: Rev Port Cardiol Asunto de la revista: CARDIOLOGIA Año: 2014 Tipo del documento: Article Pais de publicación: Portugal
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Deformidades Congénitas de las Extremidades Inferiores / Deformidades Congénitas de las Extremidades Superiores / Cardiopatías Congénitas / Defectos del Tabique Interatrial Límite: Aged / Humans / Male Idioma: En Revista: Rev Port Cardiol Asunto de la revista: CARDIOLOGIA Año: 2014 Tipo del documento: Article Pais de publicación: Portugal