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Cardiovascular malformations in Turner's and Noonan's syndrome
Insights
Cardiovascular anomalies in Turner's syndrome and Noonan's syndrome differ. Turner's syndrome patients showed aortic coarctation or stenosis, while Noonan's syndrome patients presented with pulmonary valve stenosis and other heart defects.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Turner's syndrome and Noonan's syndrome are genetic disorders with overlapping phenotypes but distinct genetic origins.
- Cardiovascular complications are common in both Turner's syndrome and Noonan's syndrome, significantly impacting patient prognosis.
- Understanding the specific cardiovascular manifestations in each syndrome is crucial for accurate diagnosis and management.
Purpose of the Study:
- To describe and compare the cardiovascular findings in patients with Turner's syndrome and Noonan's syndrome.
- To identify distinct patterns of congenital heart defects associated with each syndrome.
- To analyze electrocardiographic features and surgical findings in relation to the diagnosed syndromes.
Main Methods:
- Retrospective analysis of cardiovascular findings in 9 patients with Turner's syndrome and 9 patients with Noonan's syndrome.
- Review of patient records, including echocardiograms, electrocardiograms (ECGs), and surgical reports.
- Comparison of the types and prevalence of cardiac anomalies between the two patient groups.
Main Results:
- Turner's syndrome patients frequently exhibited coarctation of the aorta and/or aortic stenosis.
- All Noonan's syndrome patients presented with pulmonary valve stenosis; some also had atrial septal defects or anomalous pulmonary venous drainage.
- Electrocardiographic patterns in Noonan's syndrome patients often deviated from typical findings for pulmonary valve stenosis, with superiorly oriented QRS axis noted in most cases.
Conclusions:
- Phenotypically similar Turner's syndrome and Noonan's syndrome are associated with distinct cardiovascular anomalies.
- Pulmonary valve stenosis is a hallmark of Noonan's syndrome, whereas aortic arch abnormalities are more characteristic of Turner's syndrome.
- Specific ECG findings may aid in differentiating these syndromes when cardiovascular involvement is present.
Abstract:
The cardiovascular findings in 9 patients with Turner's syndrome and 9 patients with Noonan's syndrome are described. Of the 9 patients with Turner's syndrome, 4 had coarctation of the aorta, 4 aorta stenosis, and the remaining patient both these lesions. All patients with Noonan's syndrome had pulmonary valve stenosis. In addition, 2 children had an atrial septal defect and 1 an atrial septal defect associated with mild supravalvar pulmonary stenosis and anomalous drainage of the right upper pulmonary veins. In the majority of patients the electrocardiogram was different from the pattern usually seen in pulmonary valve stenosis: the QRS axis in the frontal plane was superiorly oriented in 7 out of 9 cases and in 2 patients evidence of right ventricular hypertrophy was lacking in the right praecordial leads; in 5 patients an rS complex was seen in the left praecordial leads. Gross thickening of pulmonary valve cusps was found at operation in 4 of the 8 patients who were operated on. Although phenotypically related, Turner's and Noonan's syndromes are associated with different and distinct cardiovascular anomalies.