Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

Abstract

Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously.

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

“…Arterial aneurysms are also associated with NS. There are several case reports describing aneurysms of coronary and carotid arteries as well as of the aorta (Mauro, Flors, Hoyer, Norton, & Hagspiel, 2016;Tahir et al, 2017). Similarly, CBL pathogenic variants have been associated with the development of moyamoya disease, underlining a potential role in cerebrovascular proliferation (Hyakuna et al, 2015).…”

Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation

“…1,9 The aetiology of coronary artery aneurysms remains unclear; some postulated explanations are that they are caused by a jet flow from bicuspid aortic valve, concomitant hypertrophic cardiomyopathy, a connective tissue disorder, and a direct result of the specific PTPN11 gene mutation. 10 The patient had no congenital anomaly in coronary arteries or hypertrophic cardiomyopathy that were confirmed by echocardiography before treatment for Kawasaki disease. Calcagni et al noted that the presence of coronary artery aneurysms in the absence of hypertrophic cardiomyopathy raises the possibility that this vascular phenotype is the result of an RAS pathway defect.…”

Unusual Vascular Manifestations of Noonan Syndrome

“…[1][2][3][4][5] It is an autosomal dominant disease with variable expressivity and no sex or race predilection. [1][2][3][4] Typically, it is easy to observe, as there are several distinct physical features associated with the disease. These features are similar to Turner syndrome, including shortened stature and neck webbing.…”

“…These features are similar to Turner syndrome, including shortened stature and neck webbing. [1][2][3][4][5] However, there are some facial dimorphisms unique to Noonan Syndrome, such as a deep philtrum and low-set ears. …”

“…[1][2][3][4][5] Though these two are the most common, other defects can be present such as coarctation of the aorta, abnormal systemic and pulmonary venous return, atrial septal defects, fistulas, dilatations, and (rarely) coronary artery anomalies. 1,2-4-6 To date, there have only been a handful of reports of coronary artery anomalies and ectasias in Noonan children (4,(7)(8)(9)(10)(11)(12). There has only been one previous case reported of a Noonan adult presenting with bilateral coronary ectasia detected on CCTA.…”