Bilateral Coronary Artery Dilatation in a Child With Noonan Syndrome

Abstract

A rare case of a child with Noonan syndrome who had huge bilateral coronary artery dilatation is presented. Noonan syndrome is one of the most common nonchromosomal syndromes seen in children with cardiovascular abnormalities. Coronary artery abnormality should be considered in Noonan syndrome, because this syndrome may be associated with a higher incidence of coronary anomalies than previously thought.

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

“…A jet directed toward the coronary arteries in patients with bicuspid aortic valve [6], concomitant fetal HCM [3], the presence of a coronary arteriovenous fistula, which spontaneously closed during the intrauterine period [3,5], a connective tissue disorder [2,5,6] with or without a vasculitic process superimposed to it [1], and a direct result of the specific PTPN11 gene mutation [6] are some postulated explanations. The spontaneous development of the aneurysms in a 12-year-old child, in the absence of bicuspid aortic valve and HCM, excludes the congenital origin and many of the above mentioned etiological hypotheses in this patient.…”

“…An array of vascular anomalies, although less prevalent, can also be present. Only a handful of coronary artery aneurysms and ectasias have been described previously in children with Noonan syndrome [1][2][3][4][5], and just one case of an adult with Noonan syndrome and bilateral coronary ectasia detected on coronary CT angiography has been reported before [6]. We report a case of bilateral coronary artery aneurysms in a child with Noonan syndrome demonstrated by cardiac MRI and coronary CT angiography.…”

“…Cardiovascular anomalies are present in more than 50% of patients [1]. The most frequent cardiac defects are pulmonary stenosis with valve dysplasia, hypertrophic cardiomyopathy and atrial septal defect (ASD) [1][2][3]. An array of vascular anomalies, although less prevalent, can also be present.…”

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

“…The association of NS or ML-NS and coronary artery ectasia was described in 18 patients. In Table I we summarized this cohort and their main cardiologic and molecular genetic characteristics [Wong et al, 1990;Nomura et al, 2000;Loukas et al, 2004;Saito et al, 2004;Hagspiel et al, 2005;Purnell et al, 2005;Ucar et al, 2005;Pacileo et al, 2006;Limongelli et al, 2007;Iwasaki et al, 2009;Gulati et al, 2011;Hakim et al, 2013;Fujimoto et al, 2014;Ramaiah et al, 2014]. Molecular genetic studies were performed in six individuals (4 PTPN11 and one KRAS positive mutations and one PTPN11 negative testing) [Pacileo et al, 2006;Limongelli et al, 2007;Fujimoto et al, 2014].…”

Unusual Vascular Manifestations of Noonan Syndrome

“…[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.…”