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Holt-Oram syndrome: a case report.

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  • 1Cardiology Department, Faro Hospital, Centro Hospitalar do Algarve, Faro, Portugal.

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Holt-Oram syndrome, a genetic disorder affecting limbs and heart, can present later in life. This case highlights a 75-year-old man diagnosed with Holt-Oram syndrome, showing advanced heart block.

Keywords:
Atrial septal defectDefeito septo interauricularHand-heart syndromeHolt-Oram syndromeSíndrome Holt-OramSíndrome mão-coraçãoT-BOXT-box

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Area of Science:

  • Genetics
  • Cardiology
  • Medical Case Reports

Background:

  • Holt-Oram syndrome is a rare genetic disorder.
  • It is characterized by upper limb malformations and congenital heart defects.
  • The TBX5 gene mutation on chromosome 12 is the primary cause.

Observation:

  • A 75-year-old male patient presented with lifelong upper limb morphological abnormalities.
  • He had a history of a congenital cardiac defect, specifically an atrial septal defect.
  • The patient later developed advanced atrioventricular block.

Findings:

  • This case illustrates the potential for delayed manifestation of cardiac complications in Holt-Oram syndrome.
  • Advanced atrioventricular block developed in a patient with known upper limb anomalies and atrial septal defect.
  • The TBX5 gene mutation's role in both skeletal and cardiac development is further underscored.

Implications:

  • Highlights the importance of long-term cardiac monitoring in individuals with Holt-Oram syndrome.
  • Suggests that complex cardiac arrhythmias can arise later in life in affected individuals.
  • Emphasizes the phenotypic variability and potential for late-onset complications in this genetic disorder.