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Hypoplastic left heart syndrome and 45X karyotype
H van Egmond1, E Orye, M Praet
1Paediactric Cardiology and Genetic Department, University Hospital, State University of Ghent, Belgium.
British Heart Journal
|July 1, 1988
Summary
Turner's syndrome (45X karyotype) is frequently associated with major cardiac defects, including hypoplastic left heart syndrome. This finding suggests hypoplastic left heart syndrome may be an additional manifestation of the 45X karyotype.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Turner's syndrome, characterized by the 45X karyotype, is associated with various congenital anomalies.
- Cardiac malformations are a significant concern in individuals with Turner's syndrome.
Observation:
- A review of 63 patients with Turner's syndrome revealed that 32% had major cardiac malformations, predominantly coarctation and aortic stenosis.
- Among patients with hypoplastic left heart syndrome (HLHS), 21.4% of girls exhibited a 45X karyotype.
- Four patients with Turner's syndrome died neonatally, three due to HLHS.
Findings:
- The incidence of HLHS in Turner's syndrome patients was notable.
- Conversely, a significant proportion of girls diagnosed with HLHS presented with the 45X karyotype.
- This suggests a potential link between HLHS and the 45X karyotype.
Implications:
- Hypoplastic left heart syndrome may represent an underrecognized manifestation of the 45X karyotype.
- Increased awareness and screening for cardiac anomalies in Turner's syndrome are warranted.
- Further research into the genetic underpinnings of HLHS in the context of 45X karyotype is recommended.