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Cardiovascular disease is one of the most important problems in long-term follow-up for Noonan syndrome. We examined cardiovascular issues and clinical manifestations, with a focus on the cardiovascular disease and prognosis of patients with Noonan syndrome.
This single-centre study evaluated patients who were clinically and genetically diagnosed with Noonan syndrome.
Forty-three patients diagnosed with Noonan syndrome were analysed. The most prevalent responsible mutation was found in PTPN11 (25/43). The second and third most prevalent causative genes were SOS1 (6/43) and RIT1 (5/43), respectively, and 67.4% of genetically diagnosed patients with Noonan syndrome had structural cardiovascular abnormalities. Pulmonary valve stenosis was prevalent in patients with mutations in PTPN11 (8/25), SOS1 (4/6), and RIT1 (4/5). Hypertrophic cardiomyopathy was found in two of three patients with mutations in RAF1. There was no difference in the cardiovascular events or cardiovascular disease prevalence in patients with or without PTPN11 mutations. The proportion of RIT1 mutation-positive patients who underwent intervention due to cardiovascular disease was significantly higher than that of patients with PTPN11 mutations. Patients who underwent any intervention for pulmonary valve stenosis exhibited significantly higher pulmonary flow velocity than patients who did not undergo intervention, when they visited our hospital for the first time. All patients who underwent intervention for pulmonary valve stenosis had a pulmonary flow velocity of more than 3.0 m/s at first visit.
These findings suggest that genetic information can provide a clinical prognosis for cardiovascular disease and may be part of genotype-based follow-up in Noonan syndrome.
Twisted atrioventricular connections usually occur in hearts with biventricular artioventricular connections. Here, we describe a case of twisted atrioventricular valves associated with double inlet left ventricle and discordant ventriculo-arterial connections. Color Doppler echocardiography, and cine magnetic resonance imaging, clearly demonstrated that the right atrioventricular valve was located anterior and superior to the left atrioventricular valve, and that the axes of the two atrioventricular valves crossed each other within the dominant left ventricle.
We evaluated 6 patients with an anomalous subaortic left brachiocephalic vein. All cases were associated with some form of congenital heart disease: 4 patients had coexistent tetralogy of Fallot, one had congenitally corrected transposition, and the other an atrial septal defect with azygos connection of the inferior caval vein. Our incidence of an anomalous subaortic left brachiocephalic vein in patients with congenital heart diseases was 1.1% (6/527). It was observed in 4 out of 117 patients with tetralogy of Fallot (3.4%). Doppler echocardiography was useful in establishing the diagnosis. Furthermore, both digital subtraction angiography and magnetic resonance imaging demonstrated well the anomalous course of the vein, and were useful in making an accurate diagnosis.
We describe a rare instance of isolated pulmonary regurgitation caused by a dysplastic pulmonary valve which was detected prenatally. Fetal echocardiography demonstrated severe pulmonary regurgitation, and progressive cardiomegaly because of right ventricular volume overload. After birth, conservative therapy was successful in alleviating the pulmonary vascular resistance, and the pulmonary regurgitation gradually decreased.
We report an infant with ectopic atrial tachycardia, due to an aneurysm of the right atrial appendage, who developed congestive heart failure. Although catheter ablation was transiently successful, tachycardia recurred 2 days later. The aneurysm of the right atrial appendage was resected successfully by surgery, and thereafter she did well, reverting to normal sinus rhythm.
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