Related Experiment Videos
The floating harbor syndrome with cardiac septal defect
N Lazebnik1, E McPherson, L J Rittmeyer
1Department of Genetics, Magee-Womens Hospital, Pittsburgh, PA 15213, USA.
American Journal of Medical Genetics
|December 18, 1996
Summary
Floating Harbor syndrome, typically without heart issues, was observed with severe cardiac anomalies in a young boy. This case highlights a rare association, expanding the known clinical spectrum of this genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Floating Harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, expressive language delay, and distinctive facial features.
- Cardiac anomalies are not typically associated with Floating Harbor syndrome, with only one prior case reporting pulmonic stenosis.
Observation:
- A 10-year-old boy presented with classic features of Floating Harbor syndrome.
- This patient also exhibited significant congenital heart defects, specifically tetralogy of Fallot and an atrial septal defect.
Findings:
- The co-occurrence of Floating Harbor syndrome and complex congenital heart disease (tetralogy of Fallot with atrial septal defect) is reported.
- This represents a significant departure from the previously understood clinical presentation of Floating Harbor syndrome.
Implications:
- This case expands the known phenotypic spectrum of Floating Harbor syndrome.
- It suggests the need for cardiac evaluation in patients diagnosed with Floating Harbor syndrome.
- Further research is warranted to understand the genetic or molecular mechanisms linking Floating Harbor syndrome and congenital heart defects.