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Tetralogy of Fallot with Holt-Oram syndrome

Vikas Kumar1, Vikas Agrawal, Dharmendra Jain

  • 1Department of Cardiology, Banaras Hindu University, Varanasi, India.

Indian Heart Journal
|May 11, 2012
PubMed

Insights

Holt-Oram syndrome, a genetic disorder causing heart and limb defects, rarely presents with Tetralogy of Fallot. This case highlights an unusual co-occurrence of Hand-Heart syndrome and a complex congenital heart defect.

Area of Science:

  • Genetics and Developmental Biology
  • Cardiology
  • Orthopedics

Background:

  • Holt-Oram syndrome (HOS), also known as Hand-Heart syndrome, is a genetic disorder.
  • It is characterized by congenital cardiac defects and upper limb skeletal abnormalities.
  • Common cardiac defects include atrial septal defects (ASD) and ventricular septal defects (VSD).

Observation:

  • This report details a rare case of Holt-Oram syndrome.
  • The patient presented with an unusual combination of HOS and Tetralogy of Fallot (TOF).

Findings:

  • The co-occurrence of HOS and TOF is exceptionally rare in medical literature.
  • This case expands the known spectrum of cardiac anomalies associated with HOS.

Implications:

  • Understanding rare HOS presentations is crucial for accurate diagnosis and management.
  • Further research into the genetic and developmental pathways linking HOS and TOF is warranted.
  • This case underscores the importance of comprehensive cardiac evaluation in patients with HOS.

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