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Cardiovascular disorders in Turner's syndrome and its correlation to karyotype
1Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Insights
Congenital cardiovascular anomalies, particularly aortic malformations, are common in Turner
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Turner's syndrome is a genetic condition affecting females.
- Cardiovascular abnormalities are a known complication of Turner's syndrome.
Purpose of the Study:
- To evaluate the prevalence and types of congenital cardiovascular anomalies in patients with Turner's syndrome.
- To correlate karyotype with the presence and severity of cardiac defects.
Main Methods:
- Full cardiological evaluations were performed on 49 patients with Turner's syndrome.
- Evaluations included physical examination, electrocardiography, chest X-ray, and echocardiography.
Main Results:
- Congenital cardiovascular anomalies were identified in 22.4% of patients.
- Aortic malformations (coarctation, stenosis, bicuspid valve) were the most frequent.
- More severe anomalies were associated with 45,X or 45,X/46,XX karyotypes.
Conclusions:
- Aortic malformations are a significant concern in Turner's syndrome.
- Karyotype is a predictor of cardiac anomaly severity in Turner's syndrome.
- Patients with X isochromosome or Y mosaicism showed no cardiac anomalies.
Abstract:
Forty-nine out of 66 patients with Turner's syndrome and different karyotypes underwent full cardiological evaluations (physical examination, electrocardiography, chest X-ray and echocardiography). Congenital cardiovascular anomalies were found in 11 patients (22.4%). Among the cardiac anomalies in patients with Turner's syndrome, aortic malformations (aortic coarctation [27%], aortic stenosis [18%] and bicuspid aortic valve [18%]) were the most frequent. We observed that the most severe malformations were found in those with karyotype 45,X or 45,X/46,XX. No anomalies were detected in patients with the X isochromosome or those mosaic with the Y component.