Tests and diagnosisBy Mayo Clinic staff
A diagnosis of Noonan syndrome is usually made after a doctor observes some of the key signs of the disease, but this can be difficult because some of the features associated with this disorder are subtle and can be hard to identify. Sometimes, Noonan syndrome isn't diagnosed until adulthood, after a person has a child who is more obviously affected by the condition. Molecular genetic testing may help make a diagnosis.
If there's evidence of heart problems, your doctor will likely recommend an:
- Electrocardiogram (ECG). The ECG involves placing electrodes on your chest. An ECG records the electrical impulses that travel through your heart to assess problems.
- Echocardiogram. An echocardiogram uses sound waves to create a moving image of your heart working so that your doctor can see where there may be problems.
These tests can be used to assess the type and severity of the condition. These tests are usually done by a doctor who specializes in heart conditions (cardiologist).
- Romano AA, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:745.
- Van der Burgt I. Noonan Syndrome. Orphanet Journal of Rare Diseases. 2007;2:1.
- Allanson JE. Noonan syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=noonan. Accessed Nov. 16, 2010.
- Allanson JE. Noonan syndrome. American Journal of Medical Genetics. 2007;145C: 274.