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
Summary
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.
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