NS

Q: 28 years old male never been under medical care is admitted with shortness of breath. Cardiologist wrote in ECHO report: "strong suspicion of Noonan Syndrome" (NS). Which of the following is more common in NS? (select one)

A) pulmonic stenosis

B) mitral stenosis

C) early ascending aortic dissection

D) thinning of myocardial wall 

Answer: A 

Pulmonary valve stenosis is the most common feature of NS. It is due to dysplasis of the valve. These patients usually require percutaneous balloon pulmonary valvuloplasty/ies. 

Instead of mitral stenosis (choice B) and thinning of the myocardial wall (choice D), they tend to have hypertrophic cardiomyopathy (HCM). 

Although few of these patients may have aortic root dilatation but ascending aortic dissection (choice C) is not reported.

These patients may have various other cardiac manifestations like atrial septal defect, right and left axis deviation on EKG. coronary artery atresia, ectasia, and aneurysm.

#cardiology

References:

1. Binder G, Grathwol S, von Loeper K, Blumenstock G, Kaulitz R, Freiberg C, Webel M, Lissewski C, Zenker M, Paul T. Health and quality of life in adults with Noonan syndrome. J Pediatr. 2012 Sep;161(3):501-505.e1. doi: 10.1016/j.jpeds.2012.02.043. Epub 2012 Apr 10. PMID: 22494877. 

2.  Prendiville TW, Gauvreau K, Tworog-Dube E, et al. Cardiovascular disease in Noonan syndrome. Arch Dis Child 2014; 99:629. 

3. Cornwall JW, Green RS, Nielsen JC, Gelb BD. Frequency of aortic dilation in Noonan syndrome. Am J Cardiol 2014; 113:368. 

4.  Gelb BD, Roberts AE, Tartaglia M. Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol 2015; 39:13.