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Holt-Oram Syndrome With Multiple Cardiac Abnormalities

Marilena Renata Spiridon1, Antoniu Octavian Petris1,2, Eusebiu Vlad Gorduza3

  • 1Cardiology Department, "St. Spiridon" Emergency Hospital, Iasi, Romania.

Cardiology Research
|October 23, 2018
PubMed

Insights

Holt-Oram syndrome (HOS), a genetic disorder affecting limbs and heart, presents diagnostic challenges due to variable symptoms. Early diagnosis is crucial for affected individuals and families.

Area of Science:

  • Genetics
  • Cardiology
  • Developmental Biology

Background:

  • Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder caused by TBX5 gene mutations.
  • It manifests with upper limb malformations and congenital heart defects, often with variable expressivity and complete penetrance.

Observation:

  • A case study of a young adult diagnosed with HOS in adulthood.
  • The patient presented with preaxial polydactyly, atrial septal defect, bicuspid aortic valve, and left ventricular non-compaction.
  • No family history of HOS was reported, complicating the initial diagnosis.

Findings:

  • Radiological findings were consistent with HOS, despite a negative family history.
  • The case highlights diagnostic difficulties in adult-onset HOS due to variable expressivity.

Implications:

  • Emphasizes the importance of considering HOS in adults with unexplained limb and cardiac anomalies.
  • Underscores the need for early diagnosis and genetic counseling for families.
  • Suggests HOS diagnosis can be challenging without a clear family history.

Keywords:
Atrial septal defectCarpal bonesCongenital heart defectsHolt-Oram syndromePreaxial polydactyly

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