Atrioventricular canal defect in patients with RASopathies

Cardiovascular disease in Noonan syndrome

“…Atrioventricular canal defects were described in 2.1% patients. This is a smaller percentage than the 5% reported by others, although absolute numbers of patients in any cohort remain small 5 23. With regard to the theoretical potential for a higher incidence of lymphatic complications in patients with NS after cardiac surgery, postoperative rates of pericardial or pleural effusion in NS are no higher than those reported for the same cardiac lesions (valvar PS or ASD) in non-NS patients 24–26…”

Congenital heart defects in Noonan syndrome and RIT1 mutation

“…This observation confirms the high prevalence of AVCD previously noted in RASopathies and not only in association with PTPN11 and RAF1 mutations. 3 Finally, lymphatic anomalies were present in three out of the nine patients in our cohort, including chylothorax in two subjects and lymphedema of the lower limbs in one. Chylothorax was persistent in both children and required postoperative drainage.…”

Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

“…To the best of our knowledge, 22 patients with NS with p.Thr42Ala have been reported in literature (Table 1). 12, 13, 15, 17, 21, 25, 26, 27, 28, 29, 30, 31, 32 However, data were limited because of the lack of a detailed description of their clinical features (Table 1). Among these reported patients with NS with p.Thr42Ala mutation in PTPN11 , ASD or atrioventricular canal defect (AVCD) were reported in six patients (Table 1).…”

“…However, HCM and MPD were described only in two patients each; furthermore, the co‐occurrence of HCM and JMML/MPD has not been reported (Table 1). 15, 17, 25 Two patients with NS with p.Thr42Ala mutation presenting with MPD during the neonatal period were alive for 3.9 and 4 years without treatment, respectively (Table 1). 17 However, HCM was not described in these patients.…”