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Noonan syndrome and aortic coarctation
M C Digilio1, B Marino, F Picchio
1Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
American Journal of Medical Genetics
|November 7, 1998
Summary
Aortic coarctation (AC), a congenital heart defect, is more common in Noonan syndrome (NS) than previously thought. This study found AC in 8.7% of NS patients, challenging prior assumptions about its rarity.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Noonan syndrome (NS) is frequently associated with congenital heart defects (CHDs).
- Aortic coarctation (AC) has been considered rare in NS, with only three prior male cases reported.
- AC is common in Ull-rich-Turner syndrome, a distinct aneuploidy disorder.
Purpose of the Study:
- To investigate the actual prevalence of aortic coarctation (AC) in patients diagnosed with Noonan syndrome (NS).
- To determine if AC is indeed a rare comorbidity in NS.
Main Methods:
- Retrospective review of 184 propositi with Noonan syndrome and congenital heart defects.
- Diagnosis of aortic coarctation was confirmed in the selected patient cohort.
- Clinical characteristics and chromosomal status of affected patients were analyzed.
Main Results:
- Aortic coarctation (AC) was diagnosed in 16 out of 184 (8.7%) patients with Noonan syndrome (NS).
- The affected cohort included 11 males and 5 females, all with normal chromosomal karyotypes.
- Familial occurrence of NS and AC was noted in one family, indicating a potential genetic link.
Conclusions:
- Aortic coarctation (AC) is significantly more frequent in Noonan syndrome (NS) than previously reported.
- The findings suggest AC should be considered a more common CHD in NS patients.
- Further research into the genetic basis of AC in NS is warranted.