Related Experiment Videos
Noonan syndrome and aortic coarctation
M C Digilio1, B Marino, F Picchio
1Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
Insights
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.
Abstract:
Congenital heart defect (CHD) is present in half of the propositi with Noonan syndrome (NS). Aortic coarctation (AC) is rarely seen in NS, since only three male patients with NS and AC have been previously reported. On the other hand, AC is common in the Ull-rich-Turner syndrome, an aneuploidy disorder and not a mendelian syndrome. In order to evaluate if AC is truly rare in patients with NS, we reviewed our series of 184 propositi with NS and CHD. AC was diagnosed in 16 (8.7%) patients. There were 11 males and 5 females. All had normal chromosomes. Clinical characteristics of the patients are described. Familial occurrence was detected in one girl with NS and AC whose mother and sibs also had NS, but different form of CHDs. Thus, AC is more frequent in NS than previously reported.