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Holt-Oram Syndrome: An Incidental Diagnosis.
Gupta, Mehak; Dosu, Ayodeji; Makan, Jayesh.
Afiliação
  • Gupta M; Cardiology, Shrewsbury and Telford Hospital NHS Trust, Telford, GBR.
  • Dosu A; Internal Medicine, Shrewsbury and Telford Hospital NHS Trust, Telford, GBR.
  • Makan J; Cardiology, Shrewsbury and Telford Hospital NHS Trust, Telford, GBR.
Cureus ; 14(5): e24899, 2022 May.
Article em En | MEDLINE | ID: mdl-35698674
ABSTRACT
Holt-Oram syndrome is a rare autosomal dominant disorder which occurs because of mutations in the TBX5 genes. Most notable manifestations include musculoskeletal deformities, predominantly affecting the upper limbs, and congenital heart defects. Presentation could be multifaceted leading to delay in diagnosis. We describe an interesting incidental diagnosis of Holt-Oram syndrome in a young female adult who accompanied her son to the clinic. He had undergone closure of both atrial septal defect (ASD) and patent ductus arteriosus (PDA) in his infancy. She reported progressive exertional dyspnoea, reduced exercise tolerance, and palpitations; incidentally, she was noted to have right upper limb deformities. These findings prompted further evaluation and thereafter, resulted in a diagnosis of Holt-Oram syndrome.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article